[
  {
    "docId": "AC1084",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1084",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 18 Dec 2025 19:20:12 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Cerebrotendinous xanthomatosis",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1084",
        "release": {
          "number": "1.0.0",
          "date": "Thu, 18 Dec 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CYP27A1",
            "geneOmim": "606530",
            "diseases": [
              {
                "label": "CEREBROTENDINOUS XANTHOMATOSIS; CTX",
                "omim": "213700",
                "preferredMondo": "0008948"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 10 Jul 2025 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality resulting from progressive lipid accumulation",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "213700",
                    "gene": "CYP27A1",
                    "preferredMondo": "0008948",
                    "geneOmim": "606530"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to specialist for treatment including bile acids",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "213700",
                            "gene": "CYP27A1",
                            "preferredMondo": "0008948",
                            "geneOmim": "606530"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "11CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1060",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1060",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 06 Mar 2026 00:31:20 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Cutaneous malignant melanoma-3 (CMM3)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1060",
        "release": {
          "number": "1.0.0",
          "date": "Thu, 05 Mar 2026 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CDK4",
            "geneOmim": "123829",
            "diseases": [
              {
                "label": "MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3",
                "omim": "609048",
                "preferredMondo": "0012183"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 04 Mar 2026 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1055",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1055",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Sun, 24 Mar 2024 15:02:31 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Mismatch repair cancer syndrome (MMRCS)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1055",
        "release": {
          "number": "1.0.2",
          "date": "Sun, 24 Mar 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "MLH1",
            "geneOmim": "120436",
            "diseases": [
              {
                "label": "MISMATCH REPAIR CANCER SYNDROME 1; MMRCS1",
                "omim": "276300",
                "preferredMondo": "0031219"
              }
            ]
          },
          {
            "gene": "MSH2",
            "geneOmim": "609309",
            "diseases": [
              {
                "label": "MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2",
                "omim": "619096",
                "preferredMondo": "0031219"
              }
            ]
          },
          {
            "gene": "MSH6",
            "geneOmim": "600678",
            "diseases": [
              {
                "label": "MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3",
                "omim": "619097",
                "preferredMondo": "0031219"
              }
            ]
          },
          {
            "gene": "PMS2",
            "geneOmim": "600259",
            "diseases": [
              {
                "label": "MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4",
                "omim": "619101",
                "preferredMondo": "0031219"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 24 Aug 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from neoplasia",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "276300",
                    "gene": "MLH1",
                    "preferredMondo": "0031219",
                    "geneOmim": "120436"
                  },
                  {
                    "disOmim": "619096",
                    "gene": "MSH2",
                    "preferredMondo": "0031219",
                    "geneOmim": "609309"
                  },
                  {
                    "disOmim": "619097",
                    "gene": "MSH6",
                    "preferredMondo": "0031219",
                    "geneOmim": "600678"
                  },
                  {
                    "disOmim": "619101",
                    "gene": "PMS2",
                    "preferredMondo": "0031219",
                    "geneOmim": "600259"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation and multi-modal neoplasia surveillance by specialist(s) to guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "276300",
                            "gene": "MLH1",
                            "preferredMondo": "0031219",
                            "geneOmim": "120436"
                          },
                          {
                            "disOmim": "619096",
                            "gene": "MSH2",
                            "preferredMondo": "0031219",
                            "geneOmim": "609309"
                          },
                          {
                            "disOmim": "619097",
                            "gene": "MSH6",
                            "preferredMondo": "0031219",
                            "geneOmim": "600678"
                          },
                          {
                            "disOmim": "619101",
                            "gene": "PMS2",
                            "preferredMondo": "0031219",
                            "geneOmim": "600259"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2N",
                        "overall": "9CN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1052",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1052",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 06 Jun 2024 21:36:15 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Ornithine translocase deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1052",
        "release": {
          "number": "1.0.0",
          "date": "Thu, 06 Jun 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SLC25A15",
            "geneOmim": "603861",
            "diseases": [
              {
                "label": "HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; HHHS",
                "omim": "238970",
                "preferredMondo": "0009393"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 12 Feb 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to ornithine translocase deficiency",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "238970",
                    "gene": "SLC25A15",
                    "preferredMondo": "0009393",
                    "geneOmim": "603861"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, and emergency planning",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "238970",
                            "gene": "SLC25A15",
                            "preferredMondo": "0009393",
                            "geneOmim": "603861"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1051",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1051",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 22 Apr 2025 13:20:41 -0000",
      "lastAuthor": "Reynolds Elizabeth"
    },
    "disease": "Hyperargininemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1051",
        "release": {
          "number": "1.0.0",
          "date": "Tue, 22 Apr 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ARG1",
            "geneOmim": "608313",
            "diseases": [
              {
                "label": "ARGININEMIA",
                "omim": "207800",
                "preferredMondo": "0008814"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 17 Dec 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Incomplete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to hyperargininemia",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "207800",
                    "gene": "ARG1",
                    "preferredMondo": "0008814",
                    "geneOmim": "608313"
                  }
                ],
                "severity": "2",
                "likelihood": "2A",
                "interventions": [
                  {
                    "label": "Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, and emergency planning",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "207800",
                            "gene": "ARG1",
                            "preferredMondo": "0008814",
                            "geneOmim": "608313"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "1A",
                        "overall": "7AA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1048",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1048",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 07 Aug 2024 16:49:18 -0000",
      "lastAuthor": "Reynolds Elizabeth"
    },
    "disease": "Renal cysts and diabetes syndrome (RCAD)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1048",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 07 Aug 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "HNF1B",
            "geneOmim": "189907",
            "diseases": [
              {
                "label": "RENAL CYSTS AND DIABETES SYNDROME; RCAD",
                "omim": "137920",
                "preferredMondo": "0007669"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 05 Feb 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Incomplete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Diabetes-related morbidity and mortality",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "137920",
                    "gene": "HNF1B",
                    "preferredMondo": "0007669",
                    "geneOmim": "189907"
                  }
                ],
                "severity": "2",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Evaluation by specialist to guide management",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "137920",
                            "gene": "HNF1B",
                            "preferredMondo": "0007669",
                            "geneOmim": "189907"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "11NC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Kidney-related morbidity",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "137920",
                    "gene": "HNF1B",
                    "preferredMondo": "0007669",
                    "geneOmim": "189907"
                  }
                ],
                "severity": "2",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Evaluation by specialist to guide management",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "137920",
                            "gene": "HNF1B",
                            "preferredMondo": "0007669",
                            "geneOmim": "189907"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "10NC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1045",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1045",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 21 Jul 2022 22:28:00 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Diamond-Blackfan anemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1045",
        "release": {
          "number": "1.0.0",
          "date": "Thu, 21 Jul 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "RPS10",
            "geneOmim": "603632",
            "diseases": [
              {
                "label": "DIAMOND-BLACKFAN ANEMIA 9; DBA9",
                "omim": "613308",
                "preferredMondo": "0013216"
              }
            ]
          },
          {
            "gene": "RPS19",
            "geneOmim": "603474",
            "diseases": [
              {
                "label": "DIAMOND-BLACKFAN ANEMIA 1; DBA1",
                "omim": "105650",
                "preferredMondo": "0007110"
              }
            ]
          },
          {
            "gene": "RPS24",
            "geneOmim": "602412",
            "diseases": [
              {
                "label": "DIAMOND-BLACKFAN ANEMIA 3; DBA3",
                "omim": "610629",
                "preferredMondo": "0012529"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 10 Mar 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to hematopoietic manifestations",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "105650",
                    "gene": "RPS19",
                    "preferredMondo": "0007110",
                    "geneOmim": "603474"
                  },
                  {
                    "disOmim": "610629",
                    "gene": "RPS24",
                    "preferredMondo": "0012529",
                    "geneOmim": "602412"
                  },
                  {
                    "disOmim": "613308",
                    "gene": "RPS10",
                    "preferredMondo": "0013216",
                    "geneOmim": "603632"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to specialist; initial treatment with corticosteroids and consideration of more intensive therapies (transfusion therapy, hematopoietic stem cell transplantation) in those without sustained response or who have unacceptable side effects",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "105650",
                            "gene": "RPS19",
                            "preferredMondo": "0007110",
                            "geneOmim": "603474"
                          },
                          {
                            "disOmim": "610629",
                            "gene": "RPS24",
                            "preferredMondo": "0012529",
                            "geneOmim": "602412"
                          },
                          {
                            "disOmim": "613308",
                            "gene": "RPS10",
                            "preferredMondo": "0013216",
                            "geneOmim": "603632"
                          }
                        ],
                        "natureOfIntervention": "1",
                        "effectiveness": "3C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1041",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1041",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:30:54 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Maple Syrup Urine Disease",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1041",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BCKDHA",
            "geneOmim": "608348",
            "diseases": [
              {
                "label": "MAPLE SYRUP URINE DISEASE; MSUD",
                "omim": "248600",
                "preferredMondo": "0009563"
              }
            ]
          },
          {
            "gene": "BCKDHB",
            "geneOmim": "248611",
            "diseases": [
              {
                "label": "MAPLE SYRUP URINE DISEASE; MSUD",
                "omim": "248600",
                "preferredMondo": "0009563"
              }
            ]
          },
          {
            "gene": "DBT",
            "geneOmim": "248610",
            "diseases": [
              {
                "label": "MAPLE SYRUP URINE DISEASE; MSUD",
                "omim": "248600",
                "preferredMondo": "0009563"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 28 Jun 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality associated with metabolic decompensation",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "248600",
                    "gene": "DBT",
                    "preferredMondo": "0009563",
                    "geneOmim": "248610"
                  },
                  {
                    "disOmim": "248600",
                    "gene": "BCKDHA",
                    "preferredMondo": "0009563",
                    "geneOmim": "608348"
                  },
                  {
                    "disOmim": "248600",
                    "gene": "BCKDHB",
                    "preferredMondo": "0009563",
                    "geneOmim": "248611"
                  }
                ],
                "severity": "2",
                "likelihood": "3D",
                "interventions": [
                  {
                    "label": "Metabolic management (dietary management and illness protocols)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "248600",
                            "gene": "DBT",
                            "preferredMondo": "0009563",
                            "geneOmim": "248610"
                          },
                          {
                            "disOmim": "248600",
                            "gene": "BCKDHA",
                            "preferredMondo": "0009563",
                            "geneOmim": "608348"
                          },
                          {
                            "disOmim": "248600",
                            "gene": "BCKDHB",
                            "preferredMondo": "0009563",
                            "geneOmim": "248611"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9DB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1040",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1040",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:29:55 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Gastrointestinal stromal tumor",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1040",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "KIT",
            "geneOmim": "164920",
            "diseases": [
              {
                "label": "GASTROINTESTINAL STROMAL TUMOR; GIST",
                "omim": "606764",
                "preferredMondo": "0011719"
              }
            ]
          },
          {
            "gene": "PDGFRA",
            "geneOmim": "173490",
            "diseases": [
              {
                "label": "GIST-PLUS SYNDROME; GISTPS",
                "omim": "175510",
                "preferredMondo": "0011719"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 02 Jun 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1036",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1036",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Mon, 12 Aug 2024 17:28:28 -0000",
      "lastAuthor": "Reynolds Elizabeth"
    },
    "disease": "GLUT1 deficiency syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1036",
        "release": {
          "number": "1.0.0",
          "date": "Mon, 12 Aug 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SLC2A1",
            "geneOmim": "138140",
            "diseases": [
              {
                "label": "GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1",
                "omim": "606777",
                "preferredMondo": "0000188"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 21 Mar 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to seizures in Glut1DS",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "606777",
                    "gene": "SLC2A1",
                    "preferredMondo": "0000188",
                    "geneOmim": "138140"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation by specialists for expert management, including initiation of diet",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "606777",
                            "gene": "SLC2A1",
                            "preferredMondo": "0000188",
                            "geneOmim": "138140"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1034",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1034",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 03 Sep 2025 22:14:02 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Dravet syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1034",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 03 Sep 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SCN1A",
            "geneOmim": "182389",
            "diseases": [
              {
                "label": "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2",
                "omim": "604403",
                "preferredMondo": "0100135"
              },
              {
                "label": "DRAVET SYNDROME; DRVT",
                "omim": "607208",
                "preferredMondo": "0100135"
              },
              {
                "label": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B",
                "omim": "619317",
                "preferredMondo": "0100135"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 21 May 2025 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to SCN1A-related seizures",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "607208",
                    "gene": "SCN1A",
                    "preferredMondo": "0100135",
                    "geneOmim": "182389"
                  },
                  {
                    "disOmim": "604403",
                    "gene": "SCN1A",
                    "preferredMondo": "0100135",
                    "geneOmim": "182389"
                  },
                  {
                    "disOmim": "619317",
                    "gene": "SCN1A",
                    "preferredMondo": "0100135",
                    "geneOmim": "182389"
                  }
                ],
                "severity": "3",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Referral to specialist to guide treatment with anti-seizure medications",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "607208",
                            "gene": "SCN1A",
                            "preferredMondo": "0100135",
                            "geneOmim": "182389"
                          },
                          {
                            "disOmim": "604403",
                            "gene": "SCN1A",
                            "preferredMondo": "0100135",
                            "geneOmim": "182389"
                          },
                          {
                            "disOmim": "619317",
                            "gene": "SCN1A",
                            "preferredMondo": "0100135",
                            "geneOmim": "182389"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1032",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1032",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 06 Aug 2025 23:46:04 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "LPIN1 Deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1032",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 06 Aug 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "LPIN1",
            "geneOmim": "605518",
            "diseases": [
              {
                "label": "MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE",
                "omim": "268200",
                "preferredMondo": "0009992"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 31 Mar 2025 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Rhabdomyolysis",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "268200",
                    "gene": "LPIN1",
                    "preferredMondo": "0009992",
                    "geneOmim": "605518"
                  }
                ],
                "severity": "2",
                "likelihood": "0D",
                "interventions": [
                  {
                    "label": "Avoidance of triggers and emergency instructions for prompt medical management of episodes",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "268200",
                            "gene": "LPIN1",
                            "preferredMondo": "0009992",
                            "geneOmim": "605518"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "7DC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1031",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1031",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Mon, 05 Feb 2024 22:08:29 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Danon disease",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1031",
        "release": {
          "number": "1.0.0",
          "date": "Mon, 05 Feb 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "LAMP2",
            "geneOmim": "309060",
            "diseases": [
              {
                "label": "DANON DISEASE",
                "omim": "300257",
                "preferredMondo": "0010281"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 08 Aug 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from arrhythmias and heart failure (males)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "300257",
                    "gene": "LAMP2",
                    "preferredMondo": "0010281",
                    "geneOmim": "309060"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation by specialists to guide surveillance  and treatment including consideration for implantable device or heart transplant",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "300257",
                            "gene": "LAMP2",
                            "preferredMondo": "0010281",
                            "geneOmim": "309060"
                          }
                        ],
                        "natureOfIntervention": "1",
                        "effectiveness": "2B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from arrhythmias and heart failure (females)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "300257",
                    "gene": "LAMP2",
                    "preferredMondo": "0010281",
                    "geneOmim": "309060"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation by specialists to guide surveillance and treatment including consideration for implantable device or heart transplant",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "300257",
                            "gene": "LAMP2",
                            "preferredMondo": "0010281",
                            "geneOmim": "309060"
                          }
                        ],
                        "natureOfIntervention": "1",
                        "effectiveness": "2B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1028",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1028",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:26:30 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Argininosuccinate Lyase Deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1028",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ASL",
            "geneOmim": "608310",
            "diseases": [
              {
                "label": "ARGININOSUCCINIC ACIDURIA",
                "omim": "207900",
                "preferredMondo": "0008815"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 04 May 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to hyperammonemic crises",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "207900",
                    "gene": "ASL",
                    "preferredMondo": "0008815",
                    "geneOmim": "608310"
                  }
                ],
                "severity": "2",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Referral to specialty team to guide dietary management and arginine and emergency management to mitigate hyperammonemic crises",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "207900",
                            "gene": "ASL",
                            "preferredMondo": "0008815",
                            "geneOmim": "608310"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "9NC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1025",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1025",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:23:41 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Neurodegeneration due to cerebral folate transport deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1025",
        "release": {
          "number": "1.0.5",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "FOLR1",
            "geneOmim": "136430",
            "diseases": [
              {
                "label": "NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY; NCFTD",
                "omim": "613068",
                "preferredMondo": "0013110"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 07 Jun 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1013",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1013",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:12:31 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Isovaleric acidemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1013",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "IVD",
            "geneOmim": "607036",
            "diseases": [
              {
                "label": "ISOVALERIC ACIDEMIA; IVA",
                "omim": "243500",
                "preferredMondo": "0009475"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 16 Dec 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1024",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1024",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:22:43 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Rhabdoid tumor predisposition syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1024",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SMARCA4",
            "geneOmim": "603254",
            "diseases": [
              {
                "label": "RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2",
                "omim": "613325",
                "preferredMondo": "0016473"
              }
            ]
          },
          {
            "gene": "SMARCB1",
            "geneOmim": "601607",
            "diseases": [
              {
                "label": "RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1",
                "omim": "609322",
                "preferredMondo": "0016473"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 09 Mar 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from RTPS-related tumors",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "613325",
                    "gene": "SMARCA4",
                    "preferredMondo": "0016473",
                    "geneOmim": "603254"
                  },
                  {
                    "disOmim": "609322",
                    "gene": "SMARCB1",
                    "preferredMondo": "0016473",
                    "geneOmim": "601607"
                  }
                ],
                "severity": "2",
                "likelihood": "0D",
                "interventions": [
                  {
                    "label": "Imaging surveillance to guide detection and initiate multimodal treatment (including a combination of surgery, chemotherapy, and/or radiation therapy)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "613325",
                            "gene": "SMARCA4",
                            "preferredMondo": "0016473",
                            "geneOmim": "603254"
                          },
                          {
                            "disOmim": "609322",
                            "gene": "SMARCB1",
                            "preferredMondo": "0016473",
                            "geneOmim": "601607"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2D",
                        "overall": "6DD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1010",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1010",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:09:37 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Mucopolysaccharidosis Type IVA",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1010",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "GALNS",
            "geneOmim": "612222",
            "diseases": [
              {
                "label": "MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A",
                "omim": "253000",
                "preferredMondo": "0009659"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 20 May 2020 00:00:00 -0000",
          "Mon, 16 Dec 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Functional somatic manifestations (as defined by quantitative measures of pulmonary function and 6-minute walk test)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "253000",
                    "gene": "GALNS",
                    "preferredMondo": "0009659",
                    "geneOmim": "612222"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with elosulfase alfa",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "253000",
                            "gene": "GALNS",
                            "preferredMondo": "0009659",
                            "geneOmim": "612222"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "9CA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Early mortality",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "253000",
                    "gene": "GALNS",
                    "preferredMondo": "0009659",
                    "geneOmim": "612222"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with elosulfase alfa",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "253000",
                            "gene": "GALNS",
                            "preferredMondo": "0009659",
                            "geneOmim": "612222"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "0D",
                        "overall": "7CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1020",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1020",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:19:43 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "SHORT syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1020",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PIK3R1",
            "geneOmim": "171833",
            "diseases": [
              {
                "label": "SHORT SYNDROME",
                "omim": "269880",
                "preferredMondo": "0010026"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 12 Oct 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to disorders of glucose and lipid metabolism",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "269880",
                    "gene": "PIK3R1",
                    "preferredMondo": "0010026",
                    "geneOmim": "171833"
                  }
                ],
                "severity": "1",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Metabolic management (includes monitoring/treatment of hyperglycemia and hyperlipidemia)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "269880",
                            "gene": "PIK3R1",
                            "preferredMondo": "0010026",
                            "geneOmim": "171833"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity due to sensory impairment",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "269880",
                    "gene": "PIK3R1",
                    "preferredMondo": "0010026",
                    "geneOmim": "171833"
                  }
                ],
                "severity": "1",
                "likelihood": "2N",
                "interventions": [
                  {
                    "label": "Referral to a multidisciplinary care team, if available, and regular audiologic and ophthalmologic evaluations to optimize hearing and vision",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "269880",
                            "gene": "PIK3R1",
                            "preferredMondo": "0010026",
                            "geneOmim": "171833"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "9NC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1018",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1018",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:16:39 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Prelingual non-syndromic hearing loss and deafness",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018",
        "release": {
          "number": "1.0.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CABP2",
            "geneOmim": "607314",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93",
                "omim": "614899",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "CDH23",
            "geneOmim": "605516",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12",
                "omim": "601386",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "CIB2",
            "geneOmim": "605564",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48",
                "omim": "609439",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "CLDN14",
            "geneOmim": "605608",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29",
                "omim": "614035",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "ESPN",
            "geneOmim": "606351",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36",
                "omim": "609006",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "ESRRB",
            "geneOmim": "602167",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35",
                "omim": "608565",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "GIPC3",
            "geneOmim": "608792",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15",
                "omim": "601869",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "GJB2",
            "geneOmim": "121011",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A",
                "omim": "220290",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "GRXCR1",
            "geneOmim": "613283",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25",
                "omim": "613285",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "ILDR1",
            "geneOmim": "609739",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42",
                "omim": "609646",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "LHFPL5",
            "geneOmim": "609427",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67",
                "omim": "610265",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "LRTOMT",
            "geneOmim": "612414",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63",
                "omim": "611451",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "MARVELD2",
            "geneOmim": "610572",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49",
                "omim": "610153",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "MYO15A",
            "geneOmim": "602666",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3",
                "omim": "600316",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "MYO3A",
            "geneOmim": "606808",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30",
                "omim": "607101",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "MYO6",
            "geneOmim": "600970",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22",
                "omim": "606346",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "OTOA",
            "geneOmim": "607038",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22",
                "omim": "607039",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "OTOG",
            "geneOmim": "604487",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B",
                "omim": "614945",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "OTOGL",
            "geneOmim": "614925",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B",
                "omim": "614944",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "PDZD7",
            "geneOmim": "612971",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57",
                "omim": "618003",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "PJVK",
            "geneOmim": "610219",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59",
                "omim": "610220",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "POU3F4",
            "geneOmim": "300039",
            "diseases": [
              {
                "label": "DEAFNESS, X-LINKED 2; DFNX2",
                "omim": "304400",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "PTPRQ",
            "geneOmim": "603317",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A",
                "omim": "613391",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "RDX",
            "geneOmim": "179410",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24",
                "omim": "611022",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "S1PR2",
            "geneOmim": "605111",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68",
                "omim": "610419",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "STRC",
            "geneOmim": "606440",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16",
                "omim": "603720",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "TECTA",
            "geneOmim": "602574",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12",
                "omim": "601543",
                "preferredMondo": "0016297"
              },
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21",
                "omim": "603629",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "TMC1",
            "geneOmim": "606706",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7",
                "omim": "600974",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "TMIE",
            "geneOmim": "607237",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6",
                "omim": "600971",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "TPRN",
            "geneOmim": "613354",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79",
                "omim": "613307",
                "preferredMondo": "0016297"
              }
            ]
          },
          {
            "gene": "TRIOBP",
            "geneOmim": "609761",
            "diseases": [
              {
                "label": "DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28",
                "omim": "609823",
                "preferredMondo": "0016297"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 29 Oct 2020 00:00:00 -0000",
          "Tue, 31 Mar 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Communication deficit",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "609439",
                    "gene": "CIB2",
                    "preferredMondo": "0016297",
                    "geneOmim": "605564"
                  },
                  {
                    "disOmim": "614899",
                    "gene": "CABP2",
                    "preferredMondo": "0016297",
                    "geneOmim": "607314"
                  },
                  {
                    "disOmim": "601386",
                    "gene": "CDH23",
                    "preferredMondo": "0016297",
                    "geneOmim": "605516"
                  },
                  {
                    "disOmim": "614035",
                    "gene": "CLDN14",
                    "preferredMondo": "0016297",
                    "geneOmim": "605608"
                  },
                  {
                    "disOmim": "609006",
                    "gene": "ESPN",
                    "preferredMondo": "0016297",
                    "geneOmim": "606351"
                  },
                  {
                    "disOmim": "608565",
                    "gene": "ESRRB",
                    "preferredMondo": "0016297",
                    "geneOmim": "602167"
                  },
                  {
                    "disOmim": "601869",
                    "gene": "GIPC3",
                    "preferredMondo": "0016297",
                    "geneOmim": "608792"
                  },
                  {
                    "disOmim": "220290",
                    "gene": "GJB2",
                    "preferredMondo": "0016297",
                    "geneOmim": "121011"
                  },
                  {
                    "disOmim": "613285",
                    "gene": "GRXCR1",
                    "preferredMondo": "0016297",
                    "geneOmim": "613283"
                  },
                  {
                    "disOmim": "609646",
                    "gene": "ILDR1",
                    "preferredMondo": "0016297",
                    "geneOmim": "609739"
                  },
                  {
                    "disOmim": "610265",
                    "gene": "LHFPL5",
                    "preferredMondo": "0016297",
                    "geneOmim": "609427"
                  },
                  {
                    "disOmim": "611451",
                    "gene": "LRTOMT",
                    "preferredMondo": "0016297",
                    "geneOmim": "612414"
                  },
                  {
                    "disOmim": "610153",
                    "gene": "MARVELD2",
                    "preferredMondo": "0016297",
                    "geneOmim": "610572"
                  },
                  {
                    "disOmim": "600316",
                    "gene": "MYO15A",
                    "preferredMondo": "0016297",
                    "geneOmim": "602666"
                  },
                  {
                    "disOmim": "607101",
                    "gene": "MYO3A",
                    "preferredMondo": "0016297",
                    "geneOmim": "606808"
                  },
                  {
                    "disOmim": "606346",
                    "gene": "MYO6",
                    "preferredMondo": "0016297",
                    "geneOmim": "600970"
                  },
                  {
                    "disOmim": "607039",
                    "gene": "OTOA",
                    "preferredMondo": "0016297",
                    "geneOmim": "607038"
                  },
                  {
                    "disOmim": "614945",
                    "gene": "OTOG",
                    "preferredMondo": "0016297",
                    "geneOmim": "604487"
                  },
                  {
                    "disOmim": "614944",
                    "gene": "OTOGL",
                    "preferredMondo": "0016297",
                    "geneOmim": "614925"
                  },
                  {
                    "disOmim": "618003",
                    "gene": "PDZD7",
                    "preferredMondo": "0016297",
                    "geneOmim": "612971"
                  },
                  {
                    "disOmim": "304400",
                    "gene": "POU3F4",
                    "preferredMondo": "0016297",
                    "geneOmim": "300039"
                  },
                  {
                    "disOmim": "613391",
                    "gene": "PTPRQ",
                    "preferredMondo": "0016297",
                    "geneOmim": "603317"
                  },
                  {
                    "disOmim": "611022",
                    "gene": "RDX",
                    "preferredMondo": "0016297",
                    "geneOmim": "179410"
                  },
                  {
                    "disOmim": "610419",
                    "gene": "S1PR2",
                    "preferredMondo": "0016297",
                    "geneOmim": "605111"
                  },
                  {
                    "disOmim": "603720",
                    "gene": "STRC",
                    "preferredMondo": "0016297",
                    "geneOmim": "606440"
                  },
                  {
                    "disOmim": "601543",
                    "gene": "TECTA",
                    "preferredMondo": "0016297",
                    "geneOmim": "602574"
                  },
                  {
                    "disOmim": "603629",
                    "gene": "TECTA",
                    "preferredMondo": "0016297",
                    "geneOmim": "602574"
                  },
                  {
                    "disOmim": "600974",
                    "gene": "TMC1",
                    "preferredMondo": "0016297",
                    "geneOmim": "606706"
                  },
                  {
                    "disOmim": "600971",
                    "gene": "TMIE",
                    "preferredMondo": "0016297",
                    "geneOmim": "607237"
                  },
                  {
                    "disOmim": "613307",
                    "gene": "TPRN",
                    "preferredMondo": "0016297",
                    "geneOmim": "613354"
                  },
                  {
                    "disOmim": "609823",
                    "gene": "TRIOBP",
                    "preferredMondo": "0016297",
                    "geneOmim": "609761"
                  },
                  {
                    "disOmim": "610220",
                    "gene": "PJVK",
                    "preferredMondo": "0016297",
                    "geneOmim": "610219"
                  }
                ],
                "severity": "1",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "609439",
                            "gene": "CIB2",
                            "preferredMondo": "0016297",
                            "geneOmim": "605564"
                          },
                          {
                            "disOmim": "614899",
                            "gene": "CABP2",
                            "preferredMondo": "0016297",
                            "geneOmim": "607314"
                          },
                          {
                            "disOmim": "601386",
                            "gene": "CDH23",
                            "preferredMondo": "0016297",
                            "geneOmim": "605516"
                          },
                          {
                            "disOmim": "614035",
                            "gene": "CLDN14",
                            "preferredMondo": "0016297",
                            "geneOmim": "605608"
                          },
                          {
                            "disOmim": "609006",
                            "gene": "ESPN",
                            "preferredMondo": "0016297",
                            "geneOmim": "606351"
                          },
                          {
                            "disOmim": "608565",
                            "gene": "ESRRB",
                            "preferredMondo": "0016297",
                            "geneOmim": "602167"
                          },
                          {
                            "disOmim": "601869",
                            "gene": "GIPC3",
                            "preferredMondo": "0016297",
                            "geneOmim": "608792"
                          },
                          {
                            "disOmim": "220290",
                            "gene": "GJB2",
                            "preferredMondo": "0016297",
                            "geneOmim": "121011"
                          },
                          {
                            "disOmim": "613285",
                            "gene": "GRXCR1",
                            "preferredMondo": "0016297",
                            "geneOmim": "613283"
                          },
                          {
                            "disOmim": "609646",
                            "gene": "ILDR1",
                            "preferredMondo": "0016297",
                            "geneOmim": "609739"
                          },
                          {
                            "disOmim": "610265",
                            "gene": "LHFPL5",
                            "preferredMondo": "0016297",
                            "geneOmim": "609427"
                          },
                          {
                            "disOmim": "611451",
                            "gene": "LRTOMT",
                            "preferredMondo": "0016297",
                            "geneOmim": "612414"
                          },
                          {
                            "disOmim": "610153",
                            "gene": "MARVELD2",
                            "preferredMondo": "0016297",
                            "geneOmim": "610572"
                          },
                          {
                            "disOmim": "600316",
                            "gene": "MYO15A",
                            "preferredMondo": "0016297",
                            "geneOmim": "602666"
                          },
                          {
                            "disOmim": "607101",
                            "gene": "MYO3A",
                            "preferredMondo": "0016297",
                            "geneOmim": "606808"
                          },
                          {
                            "disOmim": "606346",
                            "gene": "MYO6",
                            "preferredMondo": "0016297",
                            "geneOmim": "600970"
                          },
                          {
                            "disOmim": "607039",
                            "gene": "OTOA",
                            "preferredMondo": "0016297",
                            "geneOmim": "607038"
                          },
                          {
                            "disOmim": "614945",
                            "gene": "OTOG",
                            "preferredMondo": "0016297",
                            "geneOmim": "604487"
                          },
                          {
                            "disOmim": "614944",
                            "gene": "OTOGL",
                            "preferredMondo": "0016297",
                            "geneOmim": "614925"
                          },
                          {
                            "disOmim": "618003",
                            "gene": "PDZD7",
                            "preferredMondo": "0016297",
                            "geneOmim": "612971"
                          },
                          {
                            "disOmim": "304400",
                            "gene": "POU3F4",
                            "preferredMondo": "0016297",
                            "geneOmim": "300039"
                          },
                          {
                            "disOmim": "613391",
                            "gene": "PTPRQ",
                            "preferredMondo": "0016297",
                            "geneOmim": "603317"
                          },
                          {
                            "disOmim": "611022",
                            "gene": "RDX",
                            "preferredMondo": "0016297",
                            "geneOmim": "179410"
                          },
                          {
                            "disOmim": "610419",
                            "gene": "S1PR2",
                            "preferredMondo": "0016297",
                            "geneOmim": "605111"
                          },
                          {
                            "disOmim": "603720",
                            "gene": "STRC",
                            "preferredMondo": "0016297",
                            "geneOmim": "606440"
                          },
                          {
                            "disOmim": "601543",
                            "gene": "TECTA",
                            "preferredMondo": "0016297",
                            "geneOmim": "602574"
                          },
                          {
                            "disOmim": "603629",
                            "gene": "TECTA",
                            "preferredMondo": "0016297",
                            "geneOmim": "602574"
                          },
                          {
                            "disOmim": "600974",
                            "gene": "TMC1",
                            "preferredMondo": "0016297",
                            "geneOmim": "606706"
                          },
                          {
                            "disOmim": "600971",
                            "gene": "TMIE",
                            "preferredMondo": "0016297",
                            "geneOmim": "607237"
                          },
                          {
                            "disOmim": "613307",
                            "gene": "TPRN",
                            "preferredMondo": "0016297",
                            "geneOmim": "613354"
                          },
                          {
                            "disOmim": "609823",
                            "gene": "TRIOBP",
                            "preferredMondo": "0016297",
                            "geneOmim": "609761"
                          },
                          {
                            "disOmim": "610220",
                            "gene": "PJVK",
                            "preferredMondo": "0016297",
                            "geneOmim": "610219"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "10NB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC095",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC095",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 03 Jan 2024 23:53:11 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Acute Intermittent Porphyria",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC095",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 03 Jan 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "HMBS",
            "geneOmim": "609806",
            "diseases": [
              {
                "label": "PORPHYRIA, ACUTE INTERMITTENT; AIP",
                "omim": "176000",
                "preferredMondo": "0008294"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 07 Sep 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from acute neurovisceral attacks",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "176000",
                    "gene": "HMBS",
                    "preferredMondo": "0008294",
                    "geneOmim": "609806"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialists, including hemin administration, avoidance of triggers, and patient education",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "176000",
                            "gene": "HMBS",
                            "preferredMondo": "0008294",
                            "geneOmim": "609806"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1012",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1012",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:11:42 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Legius syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1012",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SPRED1",
            "geneOmim": "609291",
            "diseases": [
              {
                "label": "LEGIUS SYNDROME; LGSS",
                "omim": "611431",
                "preferredMondo": "0012669"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 09 Jul 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC127",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC127",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 04 Jun 2025 20:57:26 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Breast Cancer",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC127",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 04 Jun 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ATM",
            "geneOmim": "607585",
            "diseases": [
              {
                "label": "BREAST CANCER",
                "omim": "114480",
                "preferredMondo": "0016419"
              }
            ]
          },
          {
            "gene": "CHEK2",
            "geneOmim": "604373",
            "diseases": [
              {
                "label": "BREAST CANCER",
                "omim": "114480",
                "preferredMondo": "0016419"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 04 Jun 2025 20:52:15 -0000",
          "Tue, 19 Sep 2017 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1005",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1005",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:05:11 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Achondroplasia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1005",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "FGFR3",
            "geneOmim": "134934",
            "diseases": [
              {
                "label": "ACHONDROPLASIA; ACH",
                "omim": "100800",
                "preferredMondo": "0007037"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 30 Jan 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1011",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1011",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:10:46 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Smith-Lemli-Optiz Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1011",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "DHCR7",
            "geneOmim": "602858",
            "diseases": [
              {
                "label": "SMITH-LEMLI-OPITZ SYNDROME; SLOS",
                "omim": "270400",
                "preferredMondo": "0010035"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 03 Jun 2020 21:28:49 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Impaired development",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "270400",
                    "gene": "DHCR7",
                    "preferredMondo": "0010035",
                    "geneOmim": "602858"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Dietary cholesterol supplementation",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "270400",
                            "gene": "DHCR7",
                            "preferredMondo": "0010035",
                            "geneOmim": "602858"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "0C",
                        "overall": "8CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Impaired growth",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "270400",
                    "gene": "DHCR7",
                    "preferredMondo": "0010035",
                    "geneOmim": "602858"
                  }
                ],
                "severity": "1",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Dietary cholesterol supplementation",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "270400",
                            "gene": "DHCR7",
                            "preferredMondo": "0010035",
                            "geneOmim": "602858"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "1N",
                        "overall": "8CN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1022",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1022",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:20:53 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Carnitine palmitoyltransferase II deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1022",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CPT2",
            "geneOmim": "600650",
            "diseases": [
              {
                "label": "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED",
                "omim": "255110",
                "preferredMondo": "0015515"
              },
              {
                "label": "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",
                "omim": "600649",
                "preferredMondo": "0015515"
              },
              {
                "label": "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",
                "omim": "608836",
                "preferredMondo": "0015515"
              }
            ]
          }
        ],
        "searchDates": [
          "Sat, 26 Dec 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality associated with metabolic decompensation",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "255110",
                    "gene": "CPT2",
                    "preferredMondo": "0015515",
                    "geneOmim": "600650"
                  },
                  {
                    "disOmim": "600649",
                    "gene": "CPT2",
                    "preferredMondo": "0015515",
                    "geneOmim": "600650"
                  },
                  {
                    "disOmim": "608836",
                    "gene": "CPT2",
                    "preferredMondo": "0015515",
                    "geneOmim": "600650"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Metabolic management (dietary management and illness protocols)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "255110",
                            "gene": "CPT2",
                            "preferredMondo": "0015515",
                            "geneOmim": "600650"
                          },
                          {
                            "disOmim": "600649",
                            "gene": "CPT2",
                            "preferredMondo": "0015515",
                            "geneOmim": "600650"
                          },
                          {
                            "disOmim": "608836",
                            "gene": "CPT2",
                            "preferredMondo": "0015515",
                            "geneOmim": "600650"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "8CC"
                      }
                    ]
                  },
                  {
                    "label": "Triheptanoin treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "255110",
                            "gene": "CPT2",
                            "preferredMondo": "0015515",
                            "geneOmim": "600650"
                          },
                          {
                            "disOmim": "600649",
                            "gene": "CPT2",
                            "preferredMondo": "0015515",
                            "geneOmim": "600650"
                          },
                          {
                            "disOmim": "608836",
                            "gene": "CPT2",
                            "preferredMondo": "0015515",
                            "geneOmim": "600650"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2N",
                        "overall": "8CN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1004",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1004",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:04:14 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Carney Complex",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1004",
        "release": {
          "number": "1.0.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PRKAR1A",
            "geneOmim": "188830",
            "diseases": [
              {
                "label": "CARNEY COMPLEX, TYPE 1; CNC1",
                "omim": "160980",
                "preferredMondo": "0008057"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 06 Aug 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from cardiac myxomas",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "160980",
                    "gene": "PRKAR1A",
                    "preferredMondo": "0008057",
                    "geneOmim": "188830"
                  }
                ],
                "severity": "3",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Cardiac imaging to detect and guide excision of tumors",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "160980",
                            "gene": "PRKAR1A",
                            "preferredMondo": "0008057",
                            "geneOmim": "188830"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "11CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity from primary pigmented nodular adrenocortical disease",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "160980",
                    "gene": "PRKAR1A",
                    "preferredMondo": "0008057",
                    "geneOmim": "188830"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Biochemical and imaging surveillance to detect tumors and guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "160980",
                            "gene": "PRKAR1A",
                            "preferredMondo": "0008057",
                            "geneOmim": "188830"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3D",
                        "overall": "10CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1003",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1003",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:03:05 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Noonan syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003",
        "release": {
          "number": "1.0.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BRAF",
            "geneOmim": "164757",
            "diseases": [
              {
                "label": "NOONAN SYNDROME 7; NS7",
                "omim": "613706",
                "preferredMondo": "0013379"
              }
            ]
          },
          {
            "gene": "KRAS",
            "geneOmim": "190070",
            "diseases": [
              {
                "label": "NOONAN SYNDROME 3; NS3",
                "omim": "609942",
                "preferredMondo": "0012371"
              }
            ]
          },
          {
            "gene": "NRAS",
            "geneOmim": "164790",
            "diseases": [
              {
                "label": "NOONAN SYNDROME 6; NS6",
                "omim": "613224",
                "preferredMondo": "0013186"
              }
            ]
          },
          {
            "gene": "PTPN11",
            "geneOmim": "176876",
            "diseases": [
              {
                "label": "NOONAN SYNDROME 1; NS1",
                "omim": "163950",
                "preferredMondo": "0008104"
              }
            ]
          },
          {
            "gene": "RAF1",
            "geneOmim": "164760",
            "diseases": [
              {
                "label": "NOONAN SYNDROME 5; NS5",
                "omim": "611553",
                "preferredMondo": "0012690"
              }
            ]
          },
          {
            "gene": "RIT1",
            "geneOmim": "609591",
            "diseases": [
              {
                "label": "NOONAN SYNDROME 8; NS8",
                "omim": "615355",
                "preferredMondo": "0014143"
              }
            ]
          },
          {
            "gene": "SOS1",
            "geneOmim": "182530",
            "diseases": [
              {
                "label": "NOONAN SYNDROME 4; NS4",
                "omim": "610733",
                "preferredMondo": "0012547"
              }
            ]
          },
          {
            "gene": "SOS2",
            "geneOmim": "601247",
            "diseases": [
              {
                "label": "NOONAN SYNDROME 9; NS9",
                "omim": "616559",
                "preferredMondo": "0014691"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 01 Jul 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Cardiac manifestations",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "613706",
                    "gene": "BRAF",
                    "preferredMondo": "0013379",
                    "geneOmim": "164757"
                  },
                  {
                    "disOmim": "609942",
                    "gene": "KRAS",
                    "preferredMondo": "0012371",
                    "geneOmim": "190070"
                  },
                  {
                    "disOmim": "613224",
                    "gene": "NRAS",
                    "preferredMondo": "0013186",
                    "geneOmim": "164790"
                  },
                  {
                    "disOmim": "163950",
                    "gene": "PTPN11",
                    "preferredMondo": "0008104",
                    "geneOmim": "176876"
                  },
                  {
                    "disOmim": "611553",
                    "gene": "RAF1",
                    "preferredMondo": "0012690",
                    "geneOmim": "164760"
                  },
                  {
                    "disOmim": "615355",
                    "gene": "RIT1",
                    "preferredMondo": "0014143",
                    "geneOmim": "609591"
                  },
                  {
                    "disOmim": "610733",
                    "gene": "SOS1",
                    "preferredMondo": "0012547",
                    "geneOmim": "182530"
                  },
                  {
                    "disOmim": "616559",
                    "gene": "SOS2",
                    "preferredMondo": "0014691",
                    "geneOmim": "601247"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Cardiac surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "613706",
                            "gene": "BRAF",
                            "preferredMondo": "0013379",
                            "geneOmim": "164757"
                          },
                          {
                            "disOmim": "609942",
                            "gene": "KRAS",
                            "preferredMondo": "0012371",
                            "geneOmim": "190070"
                          },
                          {
                            "disOmim": "613224",
                            "gene": "NRAS",
                            "preferredMondo": "0013186",
                            "geneOmim": "164790"
                          },
                          {
                            "disOmim": "163950",
                            "gene": "PTPN11",
                            "preferredMondo": "0008104",
                            "geneOmim": "176876"
                          },
                          {
                            "disOmim": "611553",
                            "gene": "RAF1",
                            "preferredMondo": "0012690",
                            "geneOmim": "164760"
                          },
                          {
                            "disOmim": "615355",
                            "gene": "RIT1",
                            "preferredMondo": "0014143",
                            "geneOmim": "609591"
                          },
                          {
                            "disOmim": "610733",
                            "gene": "SOS1",
                            "preferredMondo": "0012547",
                            "geneOmim": "182530"
                          },
                          {
                            "disOmim": "616559",
                            "gene": "SOS2",
                            "preferredMondo": "0014691",
                            "geneOmim": "601247"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "0D",
                        "overall": "8CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC061",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC061",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 20 Sep 2023 21:25:29 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC061",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 20 Sep 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "FH",
            "geneOmim": "136850",
            "diseases": [
              {
                "label": "HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC",
                "omim": "150800",
                "preferredMondo": "0007888"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 15 May 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from HLRCC-associated renal cell cancer",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "150800",
                    "gene": "FH",
                    "preferredMondo": "0007888",
                    "geneOmim": "136850"
                  }
                ],
                "severity": "2",
                "likelihood": "1C",
                "interventions": [
                  {
                    "label": "Evaluation and surveillance by specialist to detect renal cell cancer and guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "150800",
                            "gene": "FH",
                            "preferredMondo": "0007888",
                            "geneOmim": "136850"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "8CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1002",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1002",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:02:29 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Pyridoxine-dependent epilepsy",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1002",
        "release": {
          "number": "1.1.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ALDH7A1",
            "geneOmim": "107323",
            "diseases": [
              {
                "label": "EPILEPSY, PYRIDOXINE-DEPENDENT; EPD",
                "omim": "266100",
                "preferredMondo": "0020741"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 29 May 2019 00:00:00 -0000",
          "Thu, 07 Mar 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Seizures",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "266100",
                    "gene": "ALDH7A1",
                    "preferredMondo": "0020741",
                    "geneOmim": "107323"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Pyridoxine therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "266100",
                            "gene": "ALDH7A1",
                            "preferredMondo": "0020741",
                            "geneOmim": "107323"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "11CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1038",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1038",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:27:42 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Factor VII deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1038",
        "release": {
          "number": "0.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "F7",
            "geneOmim": "613878",
            "diseases": [
              {
                "label": "FACTOR VII DEFICIENCY",
                "omim": "227500",
                "preferredMondo": "0009211"
              }
            ]
          }
        ],
        "searchDates": [
          "Sat, 29 May 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Bleeding complications with pregnancy, procedures or trauma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "227500",
                    "gene": "F7",
                    "preferredMondo": "0009211",
                    "geneOmim": "613878"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Development and implementation of comprehensive management plan by hematology team based on activity levels and bleeding history",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "227500",
                            "gene": "F7",
                            "preferredMondo": "0009211",
                            "geneOmim": "613878"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1015",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1015",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:14:39 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Refsum disease",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1015",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PHYH",
            "geneOmim": "602026",
            "diseases": [
              {
                "label": "REFSUM DISEASE, CLASSIC",
                "omim": "266500",
                "preferredMondo": "0009958"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 02 Nov 2020 21:15:11 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Progression of neurologic, dermatologic, cardiac, and ophthalmologic sequalae",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "266500",
                    "gene": "PHYH",
                    "preferredMondo": "0009958",
                    "geneOmim": "602026"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Phytanic acid lowering therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "266500",
                            "gene": "PHYH",
                            "preferredMondo": "0009958",
                            "geneOmim": "602026"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "1C",
                        "overall": "8CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC110",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC110",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 28 Jun 2023 17:15:29 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Phenylketonuria (PKU)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC110",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 28 Jun 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PAH",
            "geneOmim": "612349",
            "diseases": [
              {
                "label": "PHENYLKETONURIA; PKU",
                "omim": "261600",
                "preferredMondo": "0009861"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 27 Mar 2023 00:00:00 -0000",
          "Tue, 01 Nov 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "PAH deficiency-related morbidity from elevated blood phenylalanine levels",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "261600",
                    "gene": "PAH",
                    "preferredMondo": "0009861",
                    "geneOmim": "612349"
                  }
                ],
                "severity": "2",
                "likelihood": "3A",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialists to achieve target phenylalanine levels with dietary and/or pharmacologic therapies",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "261600",
                            "gene": "PAH",
                            "preferredMondo": "0009861",
                            "geneOmim": "612349"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3A",
                        "overall": "10AA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC086",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC086",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 04 Oct 2022 20:25:17 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Pancreatic cancer/melanoma syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC086",
        "release": {
          "number": "1.0.0",
          "date": "Tue, 04 Oct 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CDKN2A",
            "geneOmim": "600160",
            "diseases": [
              {
                "label": "MELANOMA-PANCREATIC CANCER SYNDROME",
                "omim": "606719",
                "preferredMondo": "0011713"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 03 Jun 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from melanoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "606719",
                    "gene": "CDKN2A",
                    "preferredMondo": "0011713",
                    "geneOmim": "600160"
                  }
                ],
                "severity": "2",
                "likelihood": "0D",
                "interventions": [
                  {
                    "label": "Skin surveillance to detect melanoma and guide melanoma treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "606719",
                            "gene": "CDKN2A",
                            "preferredMondo": "0011713",
                            "geneOmim": "600160"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2N",
                        "overall": "7DN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC076",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC076",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:49:28 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Malignant Hyperthermia Susceptibility",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC076",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CACNA1S",
            "geneOmim": "114208",
            "diseases": [
              {
                "label": "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5",
                "omim": "601887",
                "preferredMondo": "0018493"
              }
            ]
          },
          {
            "gene": "RYR1",
            "geneOmim": "180901",
            "diseases": [
              {
                "label": "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1",
                "omim": "145600",
                "preferredMondo": "0018493"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 12 Jan 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Malignant hyperthermia event",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "601887",
                    "gene": "CACNA1S",
                    "preferredMondo": "0018493",
                    "geneOmim": "114208"
                  },
                  {
                    "disOmim": "145600",
                    "gene": "RYR1",
                    "preferredMondo": "0018493",
                    "geneOmim": "180901"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Avoidance of triggering anesthetics",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "601887",
                            "gene": "CACNA1S",
                            "preferredMondo": "0018493",
                            "geneOmim": "114208"
                          },
                          {
                            "disOmim": "145600",
                            "gene": "RYR1",
                            "preferredMondo": "0018493",
                            "geneOmim": "180901"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC115",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC115",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:39:44 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Peutz-Jeghers Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC115",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "STK11",
            "geneOmim": "602216",
            "diseases": [
              {
                "label": "PEUTZ-JEGHERS SYNDROME; PJS",
                "omim": "175200",
                "preferredMondo": "0008280"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 02 Jan 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from GI cancer",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "175200",
                    "gene": "STK11",
                    "preferredMondo": "0008280",
                    "geneOmim": "602216"
                  }
                ],
                "severity": "2",
                "likelihood": "3A",
                "interventions": [
                  {
                    "label": "Surveillance to detect GI cancer and guide initiation of GI cancer treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "175200",
                            "gene": "STK11",
                            "preferredMondo": "0008280",
                            "geneOmim": "602216"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9AB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity from intussusception",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "175200",
                    "gene": "STK11",
                    "preferredMondo": "0008280",
                    "geneOmim": "602216"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Surveillance to detect polyps and guide initiation of polyp treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "175200",
                            "gene": "STK11",
                            "preferredMondo": "0008280",
                            "geneOmim": "602216"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1007",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1007",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Sat, 25 Feb 2023 02:28:47 -0000",
      "lastAuthor": "Henninger Michelle"
    },
    "disease": "Primary Ciliary Dyskinesia (PCD)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1007",
        "release": {
          "number": "1.0.0",
          "date": "Fri, 24 Feb 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CCDC103",
            "geneOmim": "614677",
            "diseases": [
              {
                "label": "COILED-COIL DOMAIN-CONTAINING PROTEIN 103; CCDC103",
                "omim": "614677",
                "preferredMondo": "0013854"
              }
            ]
          },
          {
            "gene": "CCDC39",
            "geneOmim": "613798",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 14; CILD14",
                "omim": "613807",
                "preferredMondo": "0013434"
              }
            ]
          },
          {
            "gene": "CCDC40",
            "geneOmim": "613799",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 15; CILD15",
                "omim": "613808",
                "preferredMondo": "0013435"
              }
            ]
          },
          {
            "gene": "CCNO",
            "geneOmim": "607752",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 29; CILD29",
                "omim": "615872",
                "preferredMondo": "0014378"
              }
            ]
          },
          {
            "gene": "CFAP300",
            "geneOmim": "618058",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 38; CILD38",
                "omim": "618063",
                "preferredMondo": "0054843"
              }
            ]
          },
          {
            "gene": "DNAAF3",
            "geneOmim": "614566",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 2; CILD2",
                "omim": "606763",
                "preferredMondo": "0011718"
              }
            ]
          },
          {
            "gene": "DNAH11",
            "geneOmim": "603339",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 7; CILD7",
                "omim": "611884",
                "preferredMondo": "0012748"
              }
            ]
          },
          {
            "gene": "DNAH5",
            "geneOmim": "603335",
            "diseases": [
              {
                "label": "DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5",
                "omim": "603335",
                "preferredMondo": "0012085"
              }
            ]
          },
          {
            "gene": "DNAI1",
            "geneOmim": "604366",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 1; CILD1",
                "omim": "244400",
                "preferredMondo": "0009484"
              }
            ]
          },
          {
            "gene": "DNAI2",
            "geneOmim": "605483",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 9; CILD9",
                "omim": "612444",
                "preferredMondo": "0012906"
              }
            ]
          },
          {
            "gene": "FOXJ1",
            "geneOmim": "602291",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 43; CILD43",
                "omim": "618699",
                "preferredMondo": "0032874"
              }
            ]
          },
          {
            "gene": "HYDIN",
            "geneOmim": "610812",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 5; CILD5",
                "omim": "608647",
                "preferredMondo": "0012088"
              }
            ]
          },
          {
            "gene": "MCIDAS",
            "geneOmim": "614086",
            "diseases": [
              {
                "label": "MULTICILIATE DIFFERENTIATION AND DNA SYNTHESIS-ASSOCIATED CELL CYCLE PROTEIN; MCIDAS",
                "omim": "614086",
                "preferredMondo": "0032872"
              }
            ]
          },
          {
            "gene": "ODAD1",
            "geneOmim": "615038",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 20; CILD20",
                "omim": "615067",
                "preferredMondo": "0014030"
              }
            ]
          },
          {
            "gene": "ODAD2",
            "geneOmim": "615408",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 23; CILD23",
                "omim": "615451",
                "preferredMondo": "0014193"
              }
            ]
          },
          {
            "gene": "ODAD4",
            "geneOmim": "617095",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 35; CILD35",
                "omim": "617092",
                "preferredMondo": "0014910"
              }
            ]
          },
          {
            "gene": "RSPH1",
            "geneOmim": "609314",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 24; CILD24",
                "omim": "615481",
                "preferredMondo": "0014202"
              }
            ]
          },
          {
            "gene": "RSPH4A",
            "geneOmim": "612647",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 11; CILD11",
                "omim": "612649",
                "preferredMondo": "0012978"
              }
            ]
          },
          {
            "gene": "SPAG1",
            "geneOmim": "603395",
            "diseases": [
              {
                "label": "CILIARY DYSKINESIA, PRIMARY, 28; CILD28",
                "omim": "615505",
                "preferredMondo": "0014216"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 15 Nov 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from respiratory tract manifestations",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "244400",
                    "gene": "DNAI1",
                    "preferredMondo": "0009484",
                    "geneOmim": "604366"
                  },
                  {
                    "disOmim": "603335",
                    "gene": "DNAH5",
                    "preferredMondo": "0012085",
                    "geneOmim": "603335"
                  },
                  {
                    "disOmim": "611884",
                    "gene": "DNAH11",
                    "preferredMondo": "0012748",
                    "geneOmim": "603339"
                  },
                  {
                    "disOmim": "613807",
                    "gene": "CCDC39",
                    "preferredMondo": "0013434",
                    "geneOmim": "613798"
                  },
                  {
                    "disOmim": "613808",
                    "gene": "CCDC40",
                    "preferredMondo": "0013435",
                    "geneOmim": "613799"
                  },
                  {
                    "disOmim": "615505",
                    "gene": "SPAG1",
                    "preferredMondo": "0014216",
                    "geneOmim": "603395"
                  },
                  {
                    "disOmim": "615872",
                    "gene": "CCNO",
                    "preferredMondo": "0014378",
                    "geneOmim": "607752"
                  },
                  {
                    "disOmim": "606763",
                    "gene": "DNAAF3",
                    "preferredMondo": "0011718",
                    "geneOmim": "614566"
                  },
                  {
                    "disOmim": "612444",
                    "gene": "DNAI2",
                    "preferredMondo": "0012906",
                    "geneOmim": "605483"
                  },
                  {
                    "disOmim": "608647",
                    "gene": "HYDIN",
                    "preferredMondo": "0012088",
                    "geneOmim": "610812"
                  },
                  {
                    "disOmim": "615481",
                    "gene": "RSPH1",
                    "preferredMondo": "0014202",
                    "geneOmim": "609314"
                  },
                  {
                    "disOmim": "612649",
                    "gene": "RSPH4A",
                    "preferredMondo": "0012978",
                    "geneOmim": "612647"
                  },
                  {
                    "disOmim": "618699",
                    "gene": "FOXJ1",
                    "preferredMondo": "0032874",
                    "geneOmim": "602291"
                  },
                  {
                    "disOmim": "614086",
                    "gene": "MCIDAS",
                    "preferredMondo": "0032872",
                    "geneOmim": "614086"
                  },
                  {
                    "disOmim": "614677",
                    "gene": "CCDC103",
                    "preferredMondo": "0013854",
                    "geneOmim": "614677"
                  },
                  {
                    "disOmim": "618063",
                    "gene": "CFAP300",
                    "preferredMondo": "0054843",
                    "geneOmim": "618058"
                  },
                  {
                    "disOmim": "615067",
                    "gene": "ODAD1",
                    "preferredMondo": "0014030",
                    "geneOmim": "615038"
                  },
                  {
                    "disOmim": "615451",
                    "gene": "ODAD2",
                    "preferredMondo": "0014193",
                    "geneOmim": "615408"
                  },
                  {
                    "disOmim": "617092",
                    "gene": "ODAD4",
                    "preferredMondo": "0014910",
                    "geneOmim": "617095"
                  }
                ],
                "severity": "2",
                "likelihood": "3A",
                "interventions": [
                  {
                    "label": "Evaluation by specialist(s) to guide diagnostic confirmation and treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "244400",
                            "gene": "DNAI1",
                            "preferredMondo": "0009484",
                            "geneOmim": "604366"
                          },
                          {
                            "disOmim": "603335",
                            "gene": "DNAH5",
                            "preferredMondo": "0012085",
                            "geneOmim": "603335"
                          },
                          {
                            "disOmim": "611884",
                            "gene": "DNAH11",
                            "preferredMondo": "0012748",
                            "geneOmim": "603339"
                          },
                          {
                            "disOmim": "613807",
                            "gene": "CCDC39",
                            "preferredMondo": "0013434",
                            "geneOmim": "613798"
                          },
                          {
                            "disOmim": "613808",
                            "gene": "CCDC40",
                            "preferredMondo": "0013435",
                            "geneOmim": "613799"
                          },
                          {
                            "disOmim": "615505",
                            "gene": "SPAG1",
                            "preferredMondo": "0014216",
                            "geneOmim": "603395"
                          },
                          {
                            "disOmim": "615872",
                            "gene": "CCNO",
                            "preferredMondo": "0014378",
                            "geneOmim": "607752"
                          },
                          {
                            "disOmim": "606763",
                            "gene": "DNAAF3",
                            "preferredMondo": "0011718",
                            "geneOmim": "614566"
                          },
                          {
                            "disOmim": "612444",
                            "gene": "DNAI2",
                            "preferredMondo": "0012906",
                            "geneOmim": "605483"
                          },
                          {
                            "disOmim": "608647",
                            "gene": "HYDIN",
                            "preferredMondo": "0012088",
                            "geneOmim": "610812"
                          },
                          {
                            "disOmim": "615481",
                            "gene": "RSPH1",
                            "preferredMondo": "0014202",
                            "geneOmim": "609314"
                          },
                          {
                            "disOmim": "612649",
                            "gene": "RSPH4A",
                            "preferredMondo": "0012978",
                            "geneOmim": "612647"
                          },
                          {
                            "disOmim": "618699",
                            "gene": "FOXJ1",
                            "preferredMondo": "0032874",
                            "geneOmim": "602291"
                          },
                          {
                            "disOmim": "614086",
                            "gene": "MCIDAS",
                            "preferredMondo": "0032872",
                            "geneOmim": "614086"
                          },
                          {
                            "disOmim": "614677",
                            "gene": "CCDC103",
                            "preferredMondo": "0013854",
                            "geneOmim": "614677"
                          },
                          {
                            "disOmim": "618063",
                            "gene": "CFAP300",
                            "preferredMondo": "0054843",
                            "geneOmim": "618058"
                          },
                          {
                            "disOmim": "615067",
                            "gene": "ODAD1",
                            "preferredMondo": "0014030",
                            "geneOmim": "615038"
                          },
                          {
                            "disOmim": "615451",
                            "gene": "ODAD2",
                            "preferredMondo": "0014193",
                            "geneOmim": "615408"
                          },
                          {
                            "disOmim": "617092",
                            "gene": "ODAD4",
                            "preferredMondo": "0014910",
                            "geneOmim": "617095"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "9AC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from heterotaxy",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "244400",
                    "gene": "DNAI1",
                    "preferredMondo": "0009484",
                    "geneOmim": "604366"
                  },
                  {
                    "disOmim": "603335",
                    "gene": "DNAH5",
                    "preferredMondo": "0012085",
                    "geneOmim": "603335"
                  },
                  {
                    "disOmim": "611884",
                    "gene": "DNAH11",
                    "preferredMondo": "0012748",
                    "geneOmim": "603339"
                  },
                  {
                    "disOmim": "613807",
                    "gene": "CCDC39",
                    "preferredMondo": "0013434",
                    "geneOmim": "613798"
                  },
                  {
                    "disOmim": "613808",
                    "gene": "CCDC40",
                    "preferredMondo": "0013435",
                    "geneOmim": "613799"
                  },
                  {
                    "disOmim": "615505",
                    "gene": "SPAG1",
                    "preferredMondo": "0014216",
                    "geneOmim": "603395"
                  },
                  {
                    "disOmim": "615872",
                    "gene": "CCNO",
                    "preferredMondo": "0014378",
                    "geneOmim": "607752"
                  },
                  {
                    "disOmim": "606763",
                    "gene": "DNAAF3",
                    "preferredMondo": "0011718",
                    "geneOmim": "614566"
                  },
                  {
                    "disOmim": "612444",
                    "gene": "DNAI2",
                    "preferredMondo": "0012906",
                    "geneOmim": "605483"
                  },
                  {
                    "disOmim": "608647",
                    "gene": "HYDIN",
                    "preferredMondo": "0012088",
                    "geneOmim": "610812"
                  },
                  {
                    "disOmim": "615481",
                    "gene": "RSPH1",
                    "preferredMondo": "0014202",
                    "geneOmim": "609314"
                  },
                  {
                    "disOmim": "612649",
                    "gene": "RSPH4A",
                    "preferredMondo": "0012978",
                    "geneOmim": "612647"
                  },
                  {
                    "disOmim": "618699",
                    "gene": "FOXJ1",
                    "preferredMondo": "0032874",
                    "geneOmim": "602291"
                  },
                  {
                    "disOmim": "614086",
                    "gene": "MCIDAS",
                    "preferredMondo": "0032872",
                    "geneOmim": "614086"
                  },
                  {
                    "disOmim": "614677",
                    "gene": "CCDC103",
                    "preferredMondo": "0013854",
                    "geneOmim": "614677"
                  },
                  {
                    "disOmim": "618063",
                    "gene": "CFAP300",
                    "preferredMondo": "0054843",
                    "geneOmim": "618058"
                  },
                  {
                    "disOmim": "615067",
                    "gene": "ODAD1",
                    "preferredMondo": "0014030",
                    "geneOmim": "615038"
                  },
                  {
                    "disOmim": "615451",
                    "gene": "ODAD2",
                    "preferredMondo": "0014193",
                    "geneOmim": "615408"
                  },
                  {
                    "disOmim": "617092",
                    "gene": "ODAD4",
                    "preferredMondo": "0014910",
                    "geneOmim": "617095"
                  }
                ],
                "severity": "2",
                "likelihood": "2N",
                "interventions": [
                  {
                    "label": "Evaluation by imaging/echocardiogram",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "244400",
                            "gene": "DNAI1",
                            "preferredMondo": "0009484",
                            "geneOmim": "604366"
                          },
                          {
                            "disOmim": "603335",
                            "gene": "DNAH5",
                            "preferredMondo": "0012085",
                            "geneOmim": "603335"
                          },
                          {
                            "disOmim": "611884",
                            "gene": "DNAH11",
                            "preferredMondo": "0012748",
                            "geneOmim": "603339"
                          },
                          {
                            "disOmim": "613807",
                            "gene": "CCDC39",
                            "preferredMondo": "0013434",
                            "geneOmim": "613798"
                          },
                          {
                            "disOmim": "613808",
                            "gene": "CCDC40",
                            "preferredMondo": "0013435",
                            "geneOmim": "613799"
                          },
                          {
                            "disOmim": "615505",
                            "gene": "SPAG1",
                            "preferredMondo": "0014216",
                            "geneOmim": "603395"
                          },
                          {
                            "disOmim": "615872",
                            "gene": "CCNO",
                            "preferredMondo": "0014378",
                            "geneOmim": "607752"
                          },
                          {
                            "disOmim": "606763",
                            "gene": "DNAAF3",
                            "preferredMondo": "0011718",
                            "geneOmim": "614566"
                          },
                          {
                            "disOmim": "612444",
                            "gene": "DNAI2",
                            "preferredMondo": "0012906",
                            "geneOmim": "605483"
                          },
                          {
                            "disOmim": "608647",
                            "gene": "HYDIN",
                            "preferredMondo": "0012088",
                            "geneOmim": "610812"
                          },
                          {
                            "disOmim": "615481",
                            "gene": "RSPH1",
                            "preferredMondo": "0014202",
                            "geneOmim": "609314"
                          },
                          {
                            "disOmim": "612649",
                            "gene": "RSPH4A",
                            "preferredMondo": "0012978",
                            "geneOmim": "612647"
                          },
                          {
                            "disOmim": "618699",
                            "gene": "FOXJ1",
                            "preferredMondo": "0032874",
                            "geneOmim": "602291"
                          },
                          {
                            "disOmim": "614086",
                            "gene": "MCIDAS",
                            "preferredMondo": "0032872",
                            "geneOmim": "614086"
                          },
                          {
                            "disOmim": "614677",
                            "gene": "CCDC103",
                            "preferredMondo": "0013854",
                            "geneOmim": "614677"
                          },
                          {
                            "disOmim": "618063",
                            "gene": "CFAP300",
                            "preferredMondo": "0054843",
                            "geneOmim": "618058"
                          },
                          {
                            "disOmim": "615067",
                            "gene": "ODAD1",
                            "preferredMondo": "0014030",
                            "geneOmim": "615038"
                          },
                          {
                            "disOmim": "615451",
                            "gene": "ODAD2",
                            "preferredMondo": "0014193",
                            "geneOmim": "615408"
                          },
                          {
                            "disOmim": "617092",
                            "gene": "ODAD4",
                            "preferredMondo": "0014910",
                            "geneOmim": "617095"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3N",
                        "overall": "10NN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1057",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1057",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 21 Nov 2024 13:36:44 -0000",
      "lastAuthor": "Reynolds Elizabeth"
    },
    "disease": "Susceptibility to neuroblastoma-3",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057",
        "release": {
          "number": "1.0.0",
          "date": "Thu, 21 Nov 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ALK",
            "geneOmim": "105590",
            "diseases": [
              {
                "label": "NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3",
                "omim": "613014",
                "preferredMondo": "0013083"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 13 Aug 2024 00:00:00 -0000",
          "Mon, 19 Sep 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Incomplete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from neuroblastic tumors",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "613014",
                    "gene": "ALK",
                    "preferredMondo": "0013083",
                    "geneOmim": "105590"
                  }
                ],
                "severity": "2",
                "likelihood": "3B",
                "interventions": [
                  {
                    "label": "Surveillance to identify tumor and guide multimodal treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "613014",
                            "gene": "ALK",
                            "preferredMondo": "0013083",
                            "geneOmim": "105590"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "0D",
                        "overall": "8BD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC099",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC099",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 06 Dec 2024 00:17:26 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC099",
        "release": {
          "number": "1.0.1",
          "date": "Thu, 05 Dec 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "NOTCH3",
            "geneOmim": "600276",
            "diseases": [
              {
                "label": "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1",
                "omim": "125310",
                "preferredMondo": "0000914"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 15 May 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1009",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1009",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:07:47 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Glanzmann thrombasthenia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1009",
        "release": {
          "number": "1.0.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ITGA2B",
            "geneOmim": "607759",
            "diseases": [
              {
                "label": "GLANZMANN THROMBASTHENIA; GT",
                "omim": "273800",
                "preferredMondo": "0100326"
              }
            ]
          },
          {
            "gene": "ITGB3",
            "geneOmim": "173470",
            "diseases": [
              {
                "label": "GLANZMANN THROMBASTHENIA; GT",
                "omim": "273800",
                "preferredMondo": "0100326"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 12 Mar 2020 00:00:00 -0000",
          "Mon, 14 Oct 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Severe or prolonged hemorrhage",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "273800",
                    "gene": "ITGB3",
                    "preferredMondo": "0100326",
                    "geneOmim": "173470"
                  },
                  {
                    "disOmim": "273800",
                    "gene": "ITGA2B",
                    "preferredMondo": "0100326",
                    "geneOmim": "607759"
                  }
                ],
                "severity": "2",
                "likelihood": "2B",
                "interventions": [
                  {
                    "label": "Infusion therapy as indicated by hematology team",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "273800",
                            "gene": "ITGB3",
                            "preferredMondo": "0100326",
                            "geneOmim": "173470"
                          },
                          {
                            "disOmim": "273800",
                            "gene": "ITGA2B",
                            "preferredMondo": "0100326",
                            "geneOmim": "607759"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3B",
                        "overall": "9BB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC028",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC028",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 28 Jun 2023 17:13:13 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Wilson Disease",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC028",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 28 Jun 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ATP7B",
            "geneOmim": "606882",
            "diseases": [
              {
                "label": "WILSON DISEASE; WND",
                "omim": "277900",
                "preferredMondo": "0010200"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 14 Feb 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from copper deposition",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "277900",
                    "gene": "ATP7B",
                    "preferredMondo": "0010200",
                    "geneOmim": "606882"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Copper chelation and zinc therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "277900",
                            "gene": "ATP7B",
                            "preferredMondo": "0010200",
                            "geneOmim": "606882"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3A",
                        "overall": "11CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC138",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC138",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 24 Feb 2026 19:30:33 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Dilated cardiomyopathy",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138",
        "release": {
          "number": "1.0.0",
          "date": "Tue, 24 Feb 2026 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BAG3",
            "geneOmim": "603883",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1HH; CMD1HH",
                "omim": "613881",
                "preferredMondo": "0013479"
              }
            ]
          },
          {
            "gene": "DES",
            "geneOmim": "125660",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1I; CMD1I",
                "omim": "604765",
                "preferredMondo": "0011482"
              }
            ]
          },
          {
            "gene": "DMD",
            "geneOmim": "300377",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 3B; CMD3B",
                "omim": "302045",
                "preferredMondo": "0010542"
              }
            ]
          },
          {
            "gene": "DSP",
            "geneOmim": "125647",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA",
                "omim": "615821",
                "preferredMondo": "0014355"
              }
            ]
          },
          {
            "gene": "FLNC",
            "geneOmim": "102565",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26",
                "omim": "617047",
                "preferredMondo": "0014883"
              }
            ]
          },
          {
            "gene": "LMNA",
            "geneOmim": "150330",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1A; CMD1A",
                "omim": "115200",
                "preferredMondo": "0007269"
              }
            ]
          },
          {
            "gene": "MYH7",
            "geneOmim": "160760",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1S; CMD1S",
                "omim": "613426",
                "preferredMondo": "0013262"
              }
            ]
          },
          {
            "gene": "PLN",
            "geneOmim": "172405",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1P; CMD1P",
                "omim": "609909",
                "preferredMondo": "0012362"
              }
            ]
          },
          {
            "gene": "RBM20",
            "geneOmim": "613171",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1DD; CMD1DD",
                "omim": "613172",
                "preferredMondo": "0013168"
              }
            ]
          },
          {
            "gene": "SCN5A",
            "geneOmim": "600163",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1E; CMD1E",
                "omim": "601154",
                "preferredMondo": "0011003"
              }
            ]
          },
          {
            "gene": "TNNC1",
            "geneOmim": "191040",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1Z; CMD1Z",
                "omim": "611879",
                "preferredMondo": "0012745"
              }
            ]
          },
          {
            "gene": "TNNT2",
            "geneOmim": "191045",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1D; CMD1D",
                "omim": "601494",
                "preferredMondo": "0011095"
              }
            ]
          },
          {
            "gene": "TTN",
            "geneOmim": "188840",
            "diseases": [
              {
                "label": "CARDIOMYOPATHY, DILATED, 1G; CMD1G",
                "omim": "604145",
                "preferredMondo": "0011400"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 21 Aug 2025 00:00:00 -0000",
          "Mon, 12 May 2025 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Sudden cardiac death",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "302045",
                    "gene": "DMD",
                    "preferredMondo": "0010542",
                    "geneOmim": "300377"
                  },
                  {
                    "disOmim": "115200",
                    "gene": "LMNA",
                    "preferredMondo": "0007269",
                    "geneOmim": "150330"
                  },
                  {
                    "disOmim": "601494",
                    "gene": "TNNT2",
                    "preferredMondo": "0011095",
                    "geneOmim": "191045"
                  },
                  {
                    "disOmim": "604145",
                    "gene": "TTN",
                    "preferredMondo": "0011400",
                    "geneOmim": "188840"
                  },
                  {
                    "disOmim": "613426",
                    "gene": "MYH7",
                    "preferredMondo": "0013262",
                    "geneOmim": "160760"
                  },
                  {
                    "disOmim": "617047",
                    "gene": "FLNC",
                    "preferredMondo": "0014883",
                    "geneOmim": "102565"
                  },
                  {
                    "disOmim": "613881",
                    "gene": "BAG3",
                    "preferredMondo": "0013479",
                    "geneOmim": "603883"
                  },
                  {
                    "disOmim": "604765",
                    "gene": "DES",
                    "preferredMondo": "0011482",
                    "geneOmim": "125660"
                  },
                  {
                    "disOmim": "601154",
                    "gene": "SCN5A",
                    "preferredMondo": "0011003",
                    "geneOmim": "600163"
                  },
                  {
                    "disOmim": "613172",
                    "gene": "RBM20",
                    "preferredMondo": "0013168",
                    "geneOmim": "613171"
                  },
                  {
                    "disOmim": "611879",
                    "gene": "TNNC1",
                    "preferredMondo": "0012745",
                    "geneOmim": "191040"
                  },
                  {
                    "disOmim": "609909",
                    "gene": "PLN",
                    "preferredMondo": "0012362",
                    "geneOmim": "172405"
                  },
                  {
                    "disOmim": "615821",
                    "gene": "DSP",
                    "preferredMondo": "0014355",
                    "geneOmim": "125647"
                  }
                ],
                "severity": "3",
                "likelihood": "1C",
                "interventions": [
                  {
                    "label": "Surveillance by specialists to guide consideration of implantable cardioverter defibrillator (ICD)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "302045",
                            "gene": "DMD",
                            "preferredMondo": "0010542",
                            "geneOmim": "300377"
                          },
                          {
                            "disOmim": "115200",
                            "gene": "LMNA",
                            "preferredMondo": "0007269",
                            "geneOmim": "150330"
                          },
                          {
                            "disOmim": "601494",
                            "gene": "TNNT2",
                            "preferredMondo": "0011095",
                            "geneOmim": "191045"
                          },
                          {
                            "disOmim": "604145",
                            "gene": "TTN",
                            "preferredMondo": "0011400",
                            "geneOmim": "188840"
                          },
                          {
                            "disOmim": "613426",
                            "gene": "MYH7",
                            "preferredMondo": "0013262",
                            "geneOmim": "160760"
                          },
                          {
                            "disOmim": "617047",
                            "gene": "FLNC",
                            "preferredMondo": "0014883",
                            "geneOmim": "102565"
                          },
                          {
                            "disOmim": "613881",
                            "gene": "BAG3",
                            "preferredMondo": "0013479",
                            "geneOmim": "603883"
                          },
                          {
                            "disOmim": "604765",
                            "gene": "DES",
                            "preferredMondo": "0011482",
                            "geneOmim": "125660"
                          },
                          {
                            "disOmim": "601154",
                            "gene": "SCN5A",
                            "preferredMondo": "0011003",
                            "geneOmim": "600163"
                          },
                          {
                            "disOmim": "613172",
                            "gene": "RBM20",
                            "preferredMondo": "0013168",
                            "geneOmim": "613171"
                          },
                          {
                            "disOmim": "611879",
                            "gene": "TNNC1",
                            "preferredMondo": "0012745",
                            "geneOmim": "191040"
                          },
                          {
                            "disOmim": "609909",
                            "gene": "PLN",
                            "preferredMondo": "0012362",
                            "geneOmim": "172405"
                          },
                          {
                            "disOmim": "615821",
                            "gene": "DSP",
                            "preferredMondo": "0014355",
                            "geneOmim": "125647"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "0D",
                        "overall": "6CD"
                      }
                    ]
                  },
                  {
                    "label": "Surveillance by specialists to guide pharmacotherapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "302045",
                            "gene": "DMD",
                            "preferredMondo": "0010542",
                            "geneOmim": "300377"
                          },
                          {
                            "disOmim": "115200",
                            "gene": "LMNA",
                            "preferredMondo": "0007269",
                            "geneOmim": "150330"
                          },
                          {
                            "disOmim": "601494",
                            "gene": "TNNT2",
                            "preferredMondo": "0011095",
                            "geneOmim": "191045"
                          },
                          {
                            "disOmim": "604145",
                            "gene": "TTN",
                            "preferredMondo": "0011400",
                            "geneOmim": "188840"
                          },
                          {
                            "disOmim": "613426",
                            "gene": "MYH7",
                            "preferredMondo": "0013262",
                            "geneOmim": "160760"
                          },
                          {
                            "disOmim": "617047",
                            "gene": "FLNC",
                            "preferredMondo": "0014883",
                            "geneOmim": "102565"
                          },
                          {
                            "disOmim": "613881",
                            "gene": "BAG3",
                            "preferredMondo": "0013479",
                            "geneOmim": "603883"
                          },
                          {
                            "disOmim": "604765",
                            "gene": "DES",
                            "preferredMondo": "0011482",
                            "geneOmim": "125660"
                          },
                          {
                            "disOmim": "601154",
                            "gene": "SCN5A",
                            "preferredMondo": "0011003",
                            "geneOmim": "600163"
                          },
                          {
                            "disOmim": "613172",
                            "gene": "RBM20",
                            "preferredMondo": "0013168",
                            "geneOmim": "613171"
                          },
                          {
                            "disOmim": "611879",
                            "gene": "TNNC1",
                            "preferredMondo": "0012745",
                            "geneOmim": "191040"
                          },
                          {
                            "disOmim": "609909",
                            "gene": "PLN",
                            "preferredMondo": "0012362",
                            "geneOmim": "172405"
                          },
                          {
                            "disOmim": "615821",
                            "gene": "DSP",
                            "preferredMondo": "0014355",
                            "geneOmim": "125647"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Heart failure",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "302045",
                    "gene": "DMD",
                    "preferredMondo": "0010542",
                    "geneOmim": "300377"
                  },
                  {
                    "disOmim": "115200",
                    "gene": "LMNA",
                    "preferredMondo": "0007269",
                    "geneOmim": "150330"
                  },
                  {
                    "disOmim": "601494",
                    "gene": "TNNT2",
                    "preferredMondo": "0011095",
                    "geneOmim": "191045"
                  },
                  {
                    "disOmim": "604145",
                    "gene": "TTN",
                    "preferredMondo": "0011400",
                    "geneOmim": "188840"
                  },
                  {
                    "disOmim": "613426",
                    "gene": "MYH7",
                    "preferredMondo": "0013262",
                    "geneOmim": "160760"
                  },
                  {
                    "disOmim": "617047",
                    "gene": "FLNC",
                    "preferredMondo": "0014883",
                    "geneOmim": "102565"
                  },
                  {
                    "disOmim": "613881",
                    "gene": "BAG3",
                    "preferredMondo": "0013479",
                    "geneOmim": "603883"
                  },
                  {
                    "disOmim": "604765",
                    "gene": "DES",
                    "preferredMondo": "0011482",
                    "geneOmim": "125660"
                  },
                  {
                    "disOmim": "601154",
                    "gene": "SCN5A",
                    "preferredMondo": "0011003",
                    "geneOmim": "600163"
                  },
                  {
                    "disOmim": "613172",
                    "gene": "RBM20",
                    "preferredMondo": "0013168",
                    "geneOmim": "613171"
                  },
                  {
                    "disOmim": "611879",
                    "gene": "TNNC1",
                    "preferredMondo": "0012745",
                    "geneOmim": "191040"
                  },
                  {
                    "disOmim": "609909",
                    "gene": "PLN",
                    "preferredMondo": "0012362",
                    "geneOmim": "172405"
                  },
                  {
                    "disOmim": "615821",
                    "gene": "DSP",
                    "preferredMondo": "0014355",
                    "geneOmim": "125647"
                  }
                ],
                "severity": "2",
                "likelihood": "0D",
                "interventions": [
                  {
                    "label": "Surveillance by specialists to guide pharmacotherapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "302045",
                            "gene": "DMD",
                            "preferredMondo": "0010542",
                            "geneOmim": "300377"
                          },
                          {
                            "disOmim": "115200",
                            "gene": "LMNA",
                            "preferredMondo": "0007269",
                            "geneOmim": "150330"
                          },
                          {
                            "disOmim": "601494",
                            "gene": "TNNT2",
                            "preferredMondo": "0011095",
                            "geneOmim": "191045"
                          },
                          {
                            "disOmim": "604145",
                            "gene": "TTN",
                            "preferredMondo": "0011400",
                            "geneOmim": "188840"
                          },
                          {
                            "disOmim": "613426",
                            "gene": "MYH7",
                            "preferredMondo": "0013262",
                            "geneOmim": "160760"
                          },
                          {
                            "disOmim": "617047",
                            "gene": "FLNC",
                            "preferredMondo": "0014883",
                            "geneOmim": "102565"
                          },
                          {
                            "disOmim": "613881",
                            "gene": "BAG3",
                            "preferredMondo": "0013479",
                            "geneOmim": "603883"
                          },
                          {
                            "disOmim": "604765",
                            "gene": "DES",
                            "preferredMondo": "0011482",
                            "geneOmim": "125660"
                          },
                          {
                            "disOmim": "601154",
                            "gene": "SCN5A",
                            "preferredMondo": "0011003",
                            "geneOmim": "600163"
                          },
                          {
                            "disOmim": "613172",
                            "gene": "RBM20",
                            "preferredMondo": "0013168",
                            "geneOmim": "613171"
                          },
                          {
                            "disOmim": "611879",
                            "gene": "TNNC1",
                            "preferredMondo": "0012745",
                            "geneOmim": "191040"
                          },
                          {
                            "disOmim": "609909",
                            "gene": "PLN",
                            "preferredMondo": "0012362",
                            "geneOmim": "172405"
                          },
                          {
                            "disOmim": "615821",
                            "gene": "DSP",
                            "preferredMondo": "0014355",
                            "geneOmim": "125647"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "6DC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1044",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1044",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 20 Apr 2022 21:05:20 -0000",
      "lastAuthor": "Hunter Jessica"
    },
    "disease": "Alport syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1044",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 20 Apr 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "COL4A3",
            "geneOmim": "120070",
            "diseases": [
              {
                "label": "ALPORT SYNDROME 3, AUTOSOMAL DOMINANT; ATS3",
                "omim": "104200",
                "preferredMondo": "0018965"
              },
              {
                "label": "ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2",
                "omim": "203780",
                "preferredMondo": "0018965"
              }
            ]
          },
          {
            "gene": "COL4A4",
            "geneOmim": "120131",
            "diseases": [
              {
                "label": "ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2",
                "omim": "203780",
                "preferredMondo": "0018965"
              }
            ]
          },
          {
            "gene": "COL4A5",
            "geneOmim": "303630",
            "diseases": [
              {
                "label": "ALPORT SYNDROME 1, X-LINKED; ATS1",
                "omim": "301050",
                "preferredMondo": "0018965"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 04 Nov 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Progression of renal disease",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "301050",
                    "gene": "COL4A5",
                    "preferredMondo": "0018965",
                    "geneOmim": "303630"
                  },
                  {
                    "disOmim": "104200",
                    "gene": "COL4A3",
                    "preferredMondo": "0018965",
                    "geneOmim": "120070"
                  },
                  {
                    "disOmim": "203780",
                    "gene": "COL4A3",
                    "preferredMondo": "0018965",
                    "geneOmim": "120070"
                  },
                  {
                    "disOmim": "203780",
                    "gene": "COL4A4",
                    "preferredMondo": "0018965",
                    "geneOmim": "120131"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to a specialist for evaluation to guide treatment with angiotensin-converting enzyme inhibitors (ACEi)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "301050",
                            "gene": "COL4A5",
                            "preferredMondo": "0018965",
                            "geneOmim": "303630"
                          },
                          {
                            "disOmim": "104200",
                            "gene": "COL4A3",
                            "preferredMondo": "0018965",
                            "geneOmim": "120070"
                          },
                          {
                            "disOmim": "203780",
                            "gene": "COL4A3",
                            "preferredMondo": "0018965",
                            "geneOmim": "120070"
                          },
                          {
                            "disOmim": "203780",
                            "gene": "COL4A4",
                            "preferredMondo": "0018965",
                            "geneOmim": "120131"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Functional impairments from loss of hearing and vision",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "301050",
                    "gene": "COL4A5",
                    "preferredMondo": "0018965",
                    "geneOmim": "303630"
                  },
                  {
                    "disOmim": "104200",
                    "gene": "COL4A3",
                    "preferredMondo": "0018965",
                    "geneOmim": "120070"
                  },
                  {
                    "disOmim": "203780",
                    "gene": "COL4A3",
                    "preferredMondo": "0018965",
                    "geneOmim": "120070"
                  },
                  {
                    "disOmim": "203780",
                    "gene": "COL4A4",
                    "preferredMondo": "0018965",
                    "geneOmim": "120131"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Regular audiologic and ophthalmologic evaluations to optimize hearing and vision",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "301050",
                            "gene": "COL4A5",
                            "preferredMondo": "0018965",
                            "geneOmim": "303630"
                          },
                          {
                            "disOmim": "104200",
                            "gene": "COL4A3",
                            "preferredMondo": "0018965",
                            "geneOmim": "120070"
                          },
                          {
                            "disOmim": "203780",
                            "gene": "COL4A3",
                            "preferredMondo": "0018965",
                            "geneOmim": "120070"
                          },
                          {
                            "disOmim": "203780",
                            "gene": "COL4A4",
                            "preferredMondo": "0018965",
                            "geneOmim": "120131"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC025",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC025",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:28:21 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "PTEN Hamartoma Tumor Syndrome - Cowden Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC025",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PTEN",
            "geneOmim": "601728",
            "diseases": [
              {
                "label": "COWDEN SYNDROME 1; CWS1",
                "omim": "158350",
                "preferredMondo": "0008020"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 09 Sep 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to thyroid disease",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "158350",
                    "gene": "PTEN",
                    "preferredMondo": "0008020",
                    "geneOmim": "601728"
                  }
                ],
                "severity": "2",
                "likelihood": "2A",
                "interventions": [
                  {
                    "label": "Surveillance to detect thyroid lesions and guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "158350",
                            "gene": "PTEN",
                            "preferredMondo": "0008020",
                            "geneOmim": "601728"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "9AC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC066",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC066",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 03 Feb 2023 19:08:55 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Juvenile polyposis syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC066",
        "release": {
          "date": "Fri, 03 Feb 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BMPR1A",
            "geneOmim": "601299",
            "diseases": [
              {
                "label": "JUVENILE POLYPOSIS SYNDROME; JPS",
                "omim": "174900",
                "preferredMondo": "0017380"
              }
            ]
          },
          {
            "gene": "SMAD4",
            "geneOmim": "600993",
            "diseases": [
              {
                "label": "JUVENILE POLYPOSIS SYNDROME; JPS",
                "omim": "174900",
                "preferredMondo": "0017380"
              },
              {
                "label": "JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT",
                "omim": "175050",
                "preferredMondo": "0017380"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 17 Oct 2022 00:00:00 -0000",
          "Thu, 21 Jul 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from GI neoplasia",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "174900",
                    "gene": "SMAD4",
                    "preferredMondo": "0017380",
                    "geneOmim": "600993"
                  },
                  {
                    "disOmim": "175050",
                    "gene": "SMAD4",
                    "preferredMondo": "0017380",
                    "geneOmim": "600993"
                  },
                  {
                    "disOmim": "174900",
                    "gene": "BMPR1A",
                    "preferredMondo": "0017380",
                    "geneOmim": "601299"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Evaluation and surveillance by specialist to guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "174900",
                            "gene": "SMAD4",
                            "preferredMondo": "0017380",
                            "geneOmim": "600993"
                          },
                          {
                            "disOmim": "175050",
                            "gene": "SMAD4",
                            "preferredMondo": "0017380",
                            "geneOmim": "600993"
                          },
                          {
                            "disOmim": "174900",
                            "gene": "BMPR1A",
                            "preferredMondo": "0017380",
                            "geneOmim": "601299"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC011",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC011",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:24:53 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "WAS-related disorders",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC011",
        "release": {
          "number": "1.1.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "WAS",
            "geneOmim": "300392",
            "diseases": [
              {
                "label": "NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX",
                "omim": "300299",
                "preferredMondo": "0010294"
              },
              {
                "label": "WISKOTT-ALDRICH SYNDROME; WAS",
                "omim": "301000",
                "preferredMondo": "0010518"
              },
              {
                "label": "THROMBOCYTOPENIA 1; THC1",
                "omim": "313900",
                "preferredMondo": "0010743"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 16 Nov 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "WAS-related morbidity and mortality (males only)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "300299",
                    "gene": "WAS",
                    "preferredMondo": "0010294",
                    "geneOmim": "300392"
                  },
                  {
                    "disOmim": "301000",
                    "gene": "WAS",
                    "preferredMondo": "0010518",
                    "geneOmim": "300392"
                  },
                  {
                    "disOmim": "313900",
                    "gene": "WAS",
                    "preferredMondo": "0010743",
                    "geneOmim": "300392"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to hematology for clinical scoring of WAS-related conditions to determine treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "300299",
                            "gene": "WAS",
                            "preferredMondo": "0010294",
                            "geneOmim": "300392"
                          },
                          {
                            "disOmim": "301000",
                            "gene": "WAS",
                            "preferredMondo": "0010518",
                            "geneOmim": "300392"
                          },
                          {
                            "disOmim": "313900",
                            "gene": "WAS",
                            "preferredMondo": "0010743",
                            "geneOmim": "300392"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC145",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC145",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Sat, 06 Jan 2024 00:31:55 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Hereditary transthyretin-related amyloidosis",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC145",
        "release": {
          "number": "1.0.4",
          "date": "Fri, 05 Jan 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "TTR",
            "geneOmim": "176300",
            "diseases": [
              {
                "label": "AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",
                "omim": "105210",
                "preferredMondo": "0007100"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 24 Oct 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC010",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC010",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:24:21 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Hypophosphatemic rickets, autosomal dominant",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC010",
        "release": {
          "number": "1.2.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "FGF23",
            "geneOmim": "605380",
            "diseases": [
              {
                "label": "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR",
                "omim": "193100",
                "preferredMondo": "0008660"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 11 Jul 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity of ADHR (rickets, growth, bone/joint pain)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "193100",
                    "gene": "FGF23",
                    "preferredMondo": "0008660",
                    "geneOmim": "605380"
                  }
                ],
                "severity": "1",
                "likelihood": "0C",
                "interventions": [
                  {
                    "label": "Oral phosphate plus vitamin D analog supplements",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "193100",
                            "gene": "FGF23",
                            "preferredMondo": "0008660",
                            "geneOmim": "605380"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "0C",
                        "overall": "3CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1039",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1039",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:28:49 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Disorders of the trifunctional protein complex",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1039",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "HADHA",
            "geneOmim": "600890",
            "diseases": [
              {
                "label": "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD",
                "omim": "609015",
                "preferredMondo": "0012172"
              },
              {
                "label": "LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY",
                "omim": "609016",
                "preferredMondo": "0012173"
              }
            ]
          },
          {
            "gene": "HADHB",
            "geneOmim": "143450",
            "diseases": [
              {
                "label": "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD",
                "omim": "609015",
                "preferredMondo": "0012172"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 19 May 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity associated with metabolic decompensation",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "609015",
                    "gene": "HADHA",
                    "preferredMondo": "0012172",
                    "geneOmim": "600890"
                  },
                  {
                    "disOmim": "609016",
                    "gene": "HADHA",
                    "preferredMondo": "0012173",
                    "geneOmim": "600890"
                  },
                  {
                    "disOmim": "609015",
                    "gene": "HADHB",
                    "preferredMondo": "0012172",
                    "geneOmim": "143450"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Metabolic management (dietary management and illness protocols)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "609015",
                            "gene": "HADHA",
                            "preferredMondo": "0012172",
                            "geneOmim": "600890"
                          },
                          {
                            "disOmim": "609016",
                            "gene": "HADHA",
                            "preferredMondo": "0012173",
                            "geneOmim": "600890"
                          },
                          {
                            "disOmim": "609015",
                            "gene": "HADHB",
                            "preferredMondo": "0012172",
                            "geneOmim": "143450"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "9CA"
                      }
                    ]
                  },
                  {
                    "label": "Triheptanoin treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "609015",
                            "gene": "HADHA",
                            "preferredMondo": "0012172",
                            "geneOmim": "600890"
                          },
                          {
                            "disOmim": "609016",
                            "gene": "HADHA",
                            "preferredMondo": "0012173",
                            "geneOmim": "600890"
                          },
                          {
                            "disOmim": "609015",
                            "gene": "HADHB",
                            "preferredMondo": "0012172",
                            "geneOmim": "143450"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC089",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC089",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 18 Jun 2025 22:29:47 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Ehlers-Danlos syndrome, classic type",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC089",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 18 Jun 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "COL5A1",
            "geneOmim": "120215",
            "diseases": [
              {
                "label": "EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1",
                "omim": "130000",
                "preferredMondo": "0007522"
              }
            ]
          },
          {
            "gene": "COL5A2",
            "geneOmim": "120190",
            "diseases": [
              {
                "label": "EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2",
                "omim": "130010",
                "preferredMondo": "0007522"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 17 Feb 2025 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Ehlers-Danlos syndrome, classic type-related morbidity",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "130000",
                    "gene": "COL5A1",
                    "preferredMondo": "0007522",
                    "geneOmim": "120215"
                  },
                  {
                    "disOmim": "130010",
                    "gene": "COL5A2",
                    "preferredMondo": "0007522",
                    "geneOmim": "120190"
                  }
                ],
                "severity": "2",
                "likelihood": "2N",
                "interventions": [
                  {
                    "label": "Referral to specialists for symptom management and anticipatory guidance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "130000",
                            "gene": "COL5A1",
                            "preferredMondo": "0007522",
                            "geneOmim": "120215"
                          },
                          {
                            "disOmim": "130010",
                            "gene": "COL5A2",
                            "preferredMondo": "0007522",
                            "geneOmim": "120190"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "1D",
                        "overall": "8ND"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1080",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1080",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 25 Feb 2025 20:21:36 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Hypochondroplasia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1080",
        "release": {
          "number": "1.0.0",
          "date": "Tue, 25 Feb 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "FGFR3",
            "geneOmim": "134934",
            "diseases": [
              {
                "label": "HYPOCHONDROPLASIA; HCH",
                "omim": "146000",
                "preferredMondo": "0007793"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 07 Oct 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Short stature"
          },
          {
            "label": "Hypochondroplasia-related morbidity"
          }
        ]
      }
    }
  },
  {
    "docId": "AC013",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC013",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:26:35 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Menkes disease",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC013",
        "release": {
          "number": "1.1.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ATP7A",
            "geneOmim": "300011",
            "diseases": [
              {
                "label": "MENKES DISEASE",
                "omim": "309400",
                "preferredMondo": "0010651"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 17 Jan 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Death",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "309400",
                    "gene": "ATP7A",
                    "preferredMondo": "0010651",
                    "geneOmim": "300011"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Subcutaneous copper-histidine (initiated before 30 days of life)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "309400",
                            "gene": "ATP7A",
                            "preferredMondo": "0010651",
                            "geneOmim": "300011"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Neurodegeneration",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "309400",
                    "gene": "ATP7A",
                    "preferredMondo": "0010651",
                    "geneOmim": "300011"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Subcutaneous copper-histidine (initiated before 30 days of life)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "309400",
                            "gene": "ATP7A",
                            "preferredMondo": "0010651",
                            "geneOmim": "300011"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "9CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC100",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC100",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 04 Aug 2021 21:09:20 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Marfan Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC100",
        "release": {
          "number": "1.1.3",
          "date": "Wed, 04 Aug 2021 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "FBN1",
            "geneOmim": "134797",
            "diseases": [
              {
                "label": "MARFAN SYNDROME; MFS",
                "omim": "154700",
                "preferredMondo": "0007947"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 01 Mar 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Clinically significant aortic aneurysm",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "154700",
                    "gene": "FBN1",
                    "preferredMondo": "0007947",
                    "geneOmim": "134797"
                  }
                ],
                "severity": "3",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Aortic surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "154700",
                            "gene": "FBN1",
                            "preferredMondo": "0007947",
                            "geneOmim": "134797"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "12CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Aortic dilation progression",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "154700",
                    "gene": "FBN1",
                    "preferredMondo": "0007947",
                    "geneOmim": "134797"
                  }
                ],
                "severity": "3",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Pharmacotherapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "154700",
                            "gene": "FBN1",
                            "preferredMondo": "0007947",
                            "geneOmim": "134797"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2A",
                        "overall": "11CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1019",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1019",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 21 Apr 2022 16:42:17 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Pendred syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1019",
        "release": {
          "number": "1.0.3",
          "date": "Thu, 21 Apr 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SLC26A4",
            "geneOmim": "605646",
            "diseases": [
              {
                "label": "PENDRED SYNDROME; PDS",
                "omim": "274600",
                "preferredMondo": "0010134"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 12 Jan 2021 00:00:00 -0000",
          "Tue, 18 Aug 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Communication Deficit",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "274600",
                    "gene": "SLC26A4",
                    "preferredMondo": "0010134",
                    "geneOmim": "605646"
                  }
                ],
                "severity": "1",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "274600",
                            "gene": "SLC26A4",
                            "preferredMondo": "0010134",
                            "geneOmim": "605646"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC112",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC112",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 28 Jun 2023 17:15:52 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Ornithine Transcarbamylase Deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC112",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 28 Jun 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "OTC",
            "geneOmim": "300461",
            "diseases": [
              {
                "label": "ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO",
                "omim": "311250",
                "preferredMondo": "0010703"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 16 Nov 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to hyperammonemic crises (males)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "311250",
                    "gene": "OTC",
                    "preferredMondo": "0010703",
                    "geneOmim": "300461"
                  }
                ],
                "severity": "2",
                "likelihood": "3A",
                "interventions": [
                  {
                    "label": "Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "311250",
                            "gene": "OTC",
                            "preferredMondo": "0010703",
                            "geneOmim": "300461"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3B",
                        "overall": "10AB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality due to hyperammonemic crises (females)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "311250",
                    "gene": "OTC",
                    "preferredMondo": "0010703",
                    "geneOmim": "300461"
                  }
                ],
                "severity": "2",
                "likelihood": "2D",
                "interventions": [
                  {
                    "label": "Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "311250",
                            "gene": "OTC",
                            "preferredMondo": "0010703",
                            "geneOmim": "300461"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3B",
                        "overall": "9DB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1054",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1054",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 29 Oct 2024 01:06:10 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Hereditary breast carcinoma",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1054",
        "release": {
          "number": "1.0.1",
          "date": "Mon, 28 Oct 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BARD1",
            "geneOmim": "601593",
            "diseases": [
              {
                "label": "BREAST CANCER",
                "omim": "114480",
                "preferredMondo": "0700267"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 12 Sep 2022 16:18:07 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC091",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC091",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:56:42 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Familial papillary renal cell carcinoma 1",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC091",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "MET",
            "geneOmim": "164860",
            "diseases": [
              {
                "label": "RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1",
                "omim": "605074",
                "preferredMondo": "0017884"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 02 Jun 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1046",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1046",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Sun, 24 Mar 2024 15:02:14 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Carbamoylphosphate synthetase 1 (CPS1) deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1046",
        "release": {
          "number": "1.0.2",
          "date": "Sun, 24 Mar 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CPS1",
            "geneOmim": "608307",
            "diseases": [
              {
                "label": "CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO",
                "omim": "237300",
                "preferredMondo": "0009376"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 16 Mar 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to hyperammonemic crises",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "237300",
                    "gene": "CPS1",
                    "preferredMondo": "0009376",
                    "geneOmim": "608307"
                  }
                ],
                "severity": "2",
                "likelihood": "3A",
                "interventions": [
                  {
                    "label": "Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "237300",
                            "gene": "CPS1",
                            "preferredMondo": "0009376",
                            "geneOmim": "608307"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9AB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC012",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC012",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 24 Sep 2025 21:01:20 -0000",
      "lastAuthor": "Jenkins Charisma"
    },
    "disease": "Biallelic RPE65 Mutation-Associated Retinal Dystrophy",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC012",
        "release": {
          "number": "1.3.0",
          "date": "Wed, 24 Sep 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "RPE65",
            "geneOmim": "180069",
            "diseases": [
              {
                "label": "LEBER CONGENITAL AMAUROSIS 2; LCA2",
                "omim": "204100",
                "preferredMondo": "0100368"
              },
              {
                "label": "RETINITIS PIGMENTOSA 20; RP20",
                "omim": "613794",
                "preferredMondo": "0100368"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 25 Feb 2019 00:00:00 -0000",
          "Tue, 18 Dec 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Progression of visual impairment",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "204100",
                    "gene": "RPE65",
                    "preferredMondo": "0100368",
                    "geneOmim": "180069"
                  },
                  {
                    "disOmim": "613794",
                    "gene": "RPE65",
                    "preferredMondo": "0100368",
                    "geneOmim": "180069"
                  }
                ],
                "severity": "2",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Gene therapy limited to clinically affected individuals with viable retinal cells",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "204100",
                            "gene": "RPE65",
                            "preferredMondo": "0100368",
                            "geneOmim": "180069"
                          },
                          {
                            "disOmim": "613794",
                            "gene": "RPE65",
                            "preferredMondo": "0100368",
                            "geneOmim": "180069"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3N",
                        "overall": "10NN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1029",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1029",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 25 Feb 2025 19:21:01 -0000",
      "lastAuthor": "Reynolds Elizabeth"
    },
    "disease": "Glycine encephalopathy",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1029",
        "release": {
          "number": "1.0.0",
          "date": "Tue, 25 Feb 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "AMT",
            "geneOmim": "238310",
            "diseases": [
              {
                "label": "GLYCINE ENCEPHALOPATHY 2; GCE2",
                "omim": "620398",
                "preferredMondo": "0011612"
              }
            ]
          },
          {
            "gene": "GLDC",
            "geneOmim": "238300",
            "diseases": [
              {
                "label": "GLYCINE ENCEPHALOPATHY 1; GCE1",
                "omim": "605899",
                "preferredMondo": "0011612"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 18 Nov 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Incomplete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to glycine encephalopathy",
            "scoringGroups": [
              {
                "label": "GroupC",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "605899",
                    "gene": "GLDC",
                    "preferredMondo": "0011612",
                    "geneOmim": "238300"
                  },
                  {
                    "disOmim": "620398",
                    "gene": "AMT",
                    "preferredMondo": "0011612",
                    "geneOmim": "238310"
                  }
                ],
                "severity": "1",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Referral to specialist to guide management.",
                    "scoringGroups": [
                      {
                        "label": "GroupC",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "605899",
                            "gene": "GLDC",
                            "preferredMondo": "0011612",
                            "geneOmim": "238300"
                          },
                          {
                            "disOmim": "620398",
                            "gene": "AMT",
                            "preferredMondo": "0011612",
                            "geneOmim": "238310"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "1C",
                        "overall": "7NC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC097",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC097",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 06 Oct 2023 17:08:00 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Cystathionine Beta-Synthase Deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC097",
        "release": {
          "number": "1.0.0",
          "date": "Fri, 06 Oct 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CBS",
            "geneOmim": "613381",
            "diseases": [
              {
                "label": "HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY",
                "omim": "236200",
                "preferredMondo": "0009352"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 23 Jun 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "CBS deficiency-related morbidity and mortality from elevated blood homocysteine levels",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "236200",
                    "gene": "CBS",
                    "preferredMondo": "0009352",
                    "geneOmim": "613381"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialists to achieve and maintain target homocysteine levels with dietary and/or pharmacologic therapies",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "236200",
                            "gene": "CBS",
                            "preferredMondo": "0009352",
                            "geneOmim": "613381"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from thromboembolism",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "236200",
                    "gene": "CBS",
                    "preferredMondo": "0009352",
                    "geneOmim": "613381"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Prophylactic anti-thrombotic measures when warranted (e.g., pregnancy, immobility)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "236200",
                            "gene": "CBS",
                            "preferredMondo": "0009352",
                            "geneOmim": "613381"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC026",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC026",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 21 Feb 2023 12:49:18 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Tuberous Sclerosis Complex (TSC)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC026",
        "release": {
          "number": "1.0.1",
          "date": "Tue, 21 Feb 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "TSC1",
            "geneOmim": "605284",
            "diseases": [
              {
                "label": "TUBEROUS SCLEROSIS 1; TSC1",
                "omim": "191100",
                "preferredMondo": "0001734"
              }
            ]
          },
          {
            "gene": "TSC2",
            "geneOmim": "191092",
            "diseases": [
              {
                "label": "TUBEROUS SCLEROSIS 2; TSC2",
                "omim": "613254",
                "preferredMondo": "0001734"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 17 Dec 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from TSC-related lesions",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "191100",
                    "gene": "TSC1",
                    "preferredMondo": "0001734",
                    "geneOmim": "605284"
                  },
                  {
                    "disOmim": "613254",
                    "gene": "TSC2",
                    "preferredMondo": "0001734",
                    "geneOmim": "191092"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation by specialist with imaging to guide possible use of mTORi therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "191100",
                            "gene": "TSC1",
                            "preferredMondo": "0001734",
                            "geneOmim": "605284"
                          },
                          {
                            "disOmim": "613254",
                            "gene": "TSC2",
                            "preferredMondo": "0001734",
                            "geneOmim": "191092"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from infantile spasms",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "191100",
                    "gene": "TSC1",
                    "preferredMondo": "0001734",
                    "geneOmim": "605284"
                  },
                  {
                    "disOmim": "613254",
                    "gene": "TSC2",
                    "preferredMondo": "0001734",
                    "geneOmim": "191092"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation by specialist with testing to guide possible use of vigabatrin",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "191100",
                            "gene": "TSC1",
                            "preferredMondo": "0001734",
                            "geneOmim": "605284"
                          },
                          {
                            "disOmim": "613254",
                            "gene": "TSC2",
                            "preferredMondo": "0001734",
                            "geneOmim": "191092"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC048",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC048",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 28 Jun 2023 17:13:36 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Familial Adenomatous Polyposis",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC048",
        "release": {
          "number": "1.0.6",
          "date": "Wed, 28 Jun 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "APC",
            "geneOmim": "611731",
            "diseases": [
              {
                "label": "FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1",
                "omim": "175100",
                "preferredMondo": "0021057"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 01 Oct 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to colorectal cancer",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "175100",
                    "gene": "APC",
                    "preferredMondo": "0021057",
                    "geneOmim": "611731"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "175100",
                            "gene": "APC",
                            "preferredMondo": "0021057",
                            "geneOmim": "611731"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3A",
                        "overall": "10CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC118",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC118",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Mon, 09 Dec 2024 19:04:22 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Citrin Deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC118",
        "release": {
          "number": "1.0.0",
          "date": "Mon, 09 Dec 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SLC25A13",
            "geneOmim": "603859",
            "diseases": [
              {
                "label": "CITRULLINEMIA, TYPE II, NEONATAL-ONSET",
                "omim": "605814",
                "preferredMondo": "0016602"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 12 Aug 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to citrin deficiency",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "605814",
                    "gene": "SLC25A13",
                    "preferredMondo": "0016602",
                    "geneOmim": "603859"
                  }
                ],
                "severity": "2",
                "likelihood": "2D",
                "interventions": [
                  {
                    "label": "Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, emergency planning, and possible transplant",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "605814",
                            "gene": "SLC25A13",
                            "preferredMondo": "0016602",
                            "geneOmim": "603859"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "8DC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC136",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC136",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 04 Jun 2025 21:14:53 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Ovarian cancer",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC136",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 04 Jun 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BRIP1",
            "geneOmim": "605882",
            "diseases": [
              {
                "label": "BREAST CANCER",
                "omim": "114480",
                "preferredMondo": "0016248"
              }
            ]
          },
          {
            "gene": "RAD51C",
            "geneOmim": "602774",
            "diseases": [
              {
                "label": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3",
                "omim": "613399",
                "preferredMondo": "0016248"
              }
            ]
          },
          {
            "gene": "RAD51D",
            "geneOmim": "602954",
            "diseases": [
              {
                "label": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4; BROVCA4",
                "omim": "614291",
                "preferredMondo": "0016248"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 04 Jun 2025 21:11:38 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1043",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1043",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 20 Oct 2022 16:13:27 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Glucose-6-phosphate dehydrogenase deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1043",
        "release": {
          "number": "1.0.2",
          "date": "Thu, 20 Oct 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "G6PD",
            "geneOmim": "305900",
            "diseases": [
              {
                "label": "GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD",
                "omim": "305900",
                "preferredMondo": "0005775"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 18 Aug 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality associated with hemolysis",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "305900",
                    "gene": "G6PD",
                    "preferredMondo": "0005775",
                    "geneOmim": "305900"
                  }
                ],
                "severity": "1",
                "likelihood": "0D",
                "interventions": [
                  {
                    "label": "Avoidance of substances that can induce hemolysis",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "305900",
                            "gene": "G6PD",
                            "preferredMondo": "0005775",
                            "geneOmim": "305900"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3D",
                        "overall": "7DD"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from perioperative complications related to hemolysis",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "305900",
                    "gene": "G6PD",
                    "preferredMondo": "0005775",
                    "geneOmim": "305900"
                  }
                ],
                "severity": "2",
                "likelihood": "0D",
                "interventions": [
                  {
                    "label": "Preoperative assessment of G6PD class to guide perioperative management",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "305900",
                            "gene": "G6PD",
                            "preferredMondo": "0005775",
                            "geneOmim": "305900"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "7DC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC063",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC063",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 29 Oct 2024 18:23:46 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Hereditary Neuropathy with Liability to Pressure Palsies",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063",
        "release": {
          "number": "2.0.0",
          "date": "Tue, 29 Oct 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PMP22",
            "geneOmim": "601097",
            "diseases": [
              {
                "label": "NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP",
                "omim": "162500",
                "preferredMondo": "0008087"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 15 Jul 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Neuropathy",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "162500",
                    "gene": "PMP22",
                    "preferredMondo": "0008087",
                    "geneOmim": "601097"
                  }
                ],
                "severity": "1",
                "likelihood": "3D",
                "interventions": [
                  {
                    "label": "Avoidance of triggers and neurotoxic drugs",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "162500",
                            "gene": "PMP22",
                            "preferredMondo": "0008087",
                            "geneOmim": "601097"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "1D",
                        "overall": "8DD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC128",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC128",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 09 May 2025 15:56:14 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "GCH-1 associated dopa-responsive dystonia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC128",
        "release": {
          "number": "1.0.0",
          "date": "Fri, 09 May 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "GCH1",
            "geneOmim": "600225",
            "diseases": [
              {
                "label": "DYSTONIA, DOPA-RESPONSIVE; DRD",
                "omim": "128230",
                "preferredMondo": "0007495"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 15 Jan 2025 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Neuromuscular dysfunction",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "128230",
                    "gene": "GCH1",
                    "preferredMondo": "0007495",
                    "geneOmim": "600225"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Surveillance by specialist to guide levodopa and decarboxylase inhibitor therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "128230",
                            "gene": "GCH1",
                            "preferredMondo": "0007495",
                            "geneOmim": "600225"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "11CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC041",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC041",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Mon, 08 Jan 2024 23:26:41 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Birt-Hogg-Dubé syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC041",
        "release": {
          "number": "1.0.1",
          "date": "Mon, 08 Jan 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "FLCN",
            "geneOmim": "607273",
            "diseases": [
              {
                "label": "BIRT-HOGG-DUBE SYNDROME; BHD",
                "omim": "135150",
                "preferredMondo": "0800445"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 22 Mar 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from pneumothorax",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "135150",
                    "gene": "FLCN",
                    "preferredMondo": "0800445",
                    "geneOmim": "607273"
                  }
                ],
                "severity": "1",
                "likelihood": "2A",
                "interventions": [
                  {
                    "label": "Anticipatory guidance regarding risk of pneumothorax including need for prompt intervention and imaging before anesthesia",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "135150",
                            "gene": "FLCN",
                            "preferredMondo": "0800445",
                            "geneOmim": "607273"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "8AC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC039",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC039",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:31:53 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Arrhythmogenic Right Ventricular Dysplasia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC039",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "DSC2",
            "geneOmim": "125645",
            "diseases": [
              {
                "label": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11",
                "omim": "610476",
                "preferredMondo": "0012506"
              }
            ]
          },
          {
            "gene": "DSG2",
            "geneOmim": "125671",
            "diseases": [
              {
                "label": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10",
                "omim": "610193",
                "preferredMondo": "0012434"
              }
            ]
          },
          {
            "gene": "DSP",
            "geneOmim": "125647",
            "diseases": [
              {
                "label": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8",
                "omim": "607450",
                "preferredMondo": "0011831"
              }
            ]
          },
          {
            "gene": "JUP",
            "geneOmim": "173325",
            "diseases": [
              {
                "label": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12",
                "omim": "611528",
                "preferredMondo": "0012684"
              }
            ]
          },
          {
            "gene": "PKP2",
            "geneOmim": "602861",
            "diseases": [
              {
                "label": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9",
                "omim": "609040",
                "preferredMondo": "0012180"
              }
            ]
          },
          {
            "gene": "TMEM43",
            "geneOmim": "612048",
            "diseases": [
              {
                "label": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5",
                "omim": "604400",
                "preferredMondo": "0011459"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 17 Mar 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Sudden cardiac death",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "609040",
                    "gene": "PKP2",
                    "preferredMondo": "0012180",
                    "geneOmim": "602861"
                  },
                  {
                    "disOmim": "607450",
                    "gene": "DSP",
                    "preferredMondo": "0011831",
                    "geneOmim": "125647"
                  },
                  {
                    "disOmim": "610476",
                    "gene": "DSC2",
                    "preferredMondo": "0012506",
                    "geneOmim": "125645"
                  },
                  {
                    "disOmim": "604400",
                    "gene": "TMEM43",
                    "preferredMondo": "0011459",
                    "geneOmim": "612048"
                  },
                  {
                    "disOmim": "610193",
                    "gene": "DSG2",
                    "preferredMondo": "0012434",
                    "geneOmim": "125671"
                  },
                  {
                    "disOmim": "611528",
                    "gene": "JUP",
                    "preferredMondo": "0012684",
                    "geneOmim": "173325"
                  }
                ],
                "severity": "3",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "609040",
                            "gene": "PKP2",
                            "preferredMondo": "0012180",
                            "geneOmim": "602861"
                          },
                          {
                            "disOmim": "607450",
                            "gene": "DSP",
                            "preferredMondo": "0011831",
                            "geneOmim": "125647"
                          },
                          {
                            "disOmim": "610476",
                            "gene": "DSC2",
                            "preferredMondo": "0012506",
                            "geneOmim": "125645"
                          },
                          {
                            "disOmim": "604400",
                            "gene": "TMEM43",
                            "preferredMondo": "0011459",
                            "geneOmim": "612048"
                          },
                          {
                            "disOmim": "610193",
                            "gene": "DSG2",
                            "preferredMondo": "0012434",
                            "geneOmim": "125671"
                          },
                          {
                            "disOmim": "611528",
                            "gene": "JUP",
                            "preferredMondo": "0012684",
                            "geneOmim": "173325"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC108",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC108",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 19 Sep 2025 19:31:21 -0000",
      "lastAuthor": "Jenkins Charisma"
    },
    "disease": "PALB2-related cancers",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC108",
        "release": {
          "number": "1.1.0",
          "date": "Fri, 19 Sep 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PALB2",
            "geneOmim": "610355",
            "diseases": [
              {
                "label": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 5; BROVCA5",
                "omim": "620442",
                "preferredMondo": "0957530"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 15 Sep 2021 22:14:33 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC103",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC103",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 20 Dec 2023 18:09:33 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Hereditary Diffuse Gastric Cancer",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC103",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 20 Dec 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CDH1",
            "geneOmim": "192090",
            "diseases": [
              {
                "label": "GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC",
                "omim": "137215",
                "preferredMondo": "0100488"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 04 Jun 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Mortality from gastric cancer",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "137215",
                    "gene": "CDH1",
                    "preferredMondo": "0100488",
                    "geneOmim": "192090"
                  }
                ],
                "severity": "2",
                "likelihood": "0C",
                "interventions": [
                  {
                    "label": "Endoscopic surveillance to detect gastric cancer or precursors and guide gastric cancer treatment and/or gastrectomy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "137215",
                            "gene": "CDH1",
                            "preferredMondo": "0100488",
                            "geneOmim": "192090"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "1B",
                        "overall": "5CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC087",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC087",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 07 Mar 2023 17:37:31 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Basal Cell Nevus Syndrome (BCNS)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC087",
        "release": {
          "number": "1.0.0",
          "date": "Tue, 07 Mar 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PTCH1",
            "geneOmim": "601309",
            "diseases": [
              {
                "label": "BASAL CELL NEVUS SYNDROME; BCNS",
                "omim": "109400",
                "preferredMondo": "0007187"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 07 Nov 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity from basal cell carcinomas",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "109400",
                    "gene": "PTCH1",
                    "preferredMondo": "0007187",
                    "geneOmim": "601309"
                  }
                ],
                "severity": "1",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Avoidance of sun exposure and radiation",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "109400",
                            "gene": "PTCH1",
                            "preferredMondo": "0007187",
                            "geneOmim": "601309"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "0D",
                        "overall": "6CD"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity from neoplasia",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "109400",
                    "gene": "PTCH1",
                    "preferredMondo": "0007187",
                    "geneOmim": "601309"
                  }
                ],
                "severity": "1",
                "likelihood": "3D",
                "interventions": [
                  {
                    "label": "Evaluation and surveillance by specialists to detect neoplasia and guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "109400",
                            "gene": "PTCH1",
                            "preferredMondo": "0007187",
                            "geneOmim": "601309"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "9DB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC001",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC001",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:19:21 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Retinoblastoma",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC001",
        "release": {
          "number": "1.3.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "RB1",
            "geneOmim": "614041",
            "diseases": [
              {
                "label": "RETINOBLASTOMA; RB1",
                "omim": "180200",
                "preferredMondo": "0008380"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 30 Apr 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity or mortality from retinoblastoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "180200",
                    "gene": "RB1",
                    "preferredMondo": "0008380",
                    "geneOmim": "614041"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "180200",
                            "gene": "RB1",
                            "preferredMondo": "0008380",
                            "geneOmim": "614041"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity or mortality from second extra-ocular malignant neoplasms",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "180200",
                    "gene": "RB1",
                    "preferredMondo": "0008380",
                    "geneOmim": "614041"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "180200",
                            "gene": "RB1",
                            "preferredMondo": "0008380",
                            "geneOmim": "614041"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2N",
                        "overall": "9CN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1001",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1001",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:01:21 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Mucopolysaccharidosis Type II",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1001",
        "release": {
          "number": "1.1.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "IDS",
            "geneOmim": "300823",
            "diseases": [
              {
                "label": "MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2",
                "omim": "309900",
                "preferredMondo": "0010674"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 17 Apr 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Somatic manifestations (as defined by quantitative measures of pulmonary function, 6 minute walk, and hepatosplenomegaly)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "309900",
                    "gene": "IDS",
                    "preferredMondo": "0010674",
                    "geneOmim": "300823"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with idursulfase",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "309900",
                            "gene": "IDS",
                            "preferredMondo": "0010674",
                            "geneOmim": "300823"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Early Mortality",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "309900",
                    "gene": "IDS",
                    "preferredMondo": "0010674",
                    "geneOmim": "300823"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with idursulfase",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "309900",
                            "gene": "IDS",
                            "preferredMondo": "0010674",
                            "geneOmim": "300823"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2N",
                        "overall": "9CN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC040",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC040",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:33:06 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Brugada Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC040",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SCN5A",
            "geneOmim": "600163",
            "diseases": [
              {
                "label": "BRUGADA SYNDROME 1; BRGDA1",
                "omim": "601144",
                "preferredMondo": "0011001"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 10 Oct 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Sudden cardiac death",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "601144",
                    "gene": "SCN5A",
                    "preferredMondo": "0011001",
                    "geneOmim": "600163"
                  }
                ],
                "severity": "3",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Avoidance of drugs with sodium channel blocking properties and high fever",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "601144",
                            "gene": "SCN5A",
                            "preferredMondo": "0011001",
                            "geneOmim": "600163"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "10CB"
                      }
                    ]
                  },
                  {
                    "label": "Risk stratification (may include EPS) to guide ICD placement",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "601144",
                            "gene": "SCN5A",
                            "preferredMondo": "0011001",
                            "geneOmim": "600163"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2D",
                        "overall": "9CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC081",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC081",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Mon, 13 Sep 2021 19:51:42 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Multiple Endocrine Neoplasia Type IIB",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC081",
        "release": {
          "number": "1.1.3",
          "date": "Mon, 13 Sep 2021 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "RET",
            "geneOmim": "164761",
            "diseases": [
              {
                "label": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B",
                "omim": "162300",
                "preferredMondo": "0008082"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 06 Mar 2019 00:00:00 -0000",
          "Thu, 04 Jun 2015 00:00:00 -0000",
          "Tue, 15 Jan 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Medullary thyroid carcinoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "162300",
                    "gene": "RET",
                    "preferredMondo": "0008082",
                    "geneOmim": "164761"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Prophylactic thyroidectomy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "162300",
                            "gene": "RET",
                            "preferredMondo": "0008082",
                            "geneOmim": "164761"
                          }
                        ],
                        "natureOfIntervention": "1",
                        "effectiveness": "3B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Pheochromocytoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "162300",
                    "gene": "RET",
                    "preferredMondo": "0008082",
                    "geneOmim": "164761"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Biochemical Surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "162300",
                            "gene": "RET",
                            "preferredMondo": "0008082",
                            "geneOmim": "164761"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3D",
                        "overall": "11CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC126",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC126",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 13 Aug 2025 22:58:40 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Very Long Chain Actyl-CoA Dehydrogenase Deficiency (VLCAD)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC126",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 13 Aug 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ACADVL",
            "geneOmim": "609575",
            "diseases": [
              {
                "label": "ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD",
                "omim": "201475",
                "preferredMondo": "0008723"
              }
            ]
          }
        ],
        "searchDates": [
          "Sat, 08 Mar 2025 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to VLCAD deficiency",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "201475",
                    "gene": "ACADVL",
                    "preferredMondo": "0008723",
                    "geneOmim": "609575"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Surveillance by specialists to guide management, including diet, emergency planning, triheptanoin therapy, and prevention of secondary complications",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "201475",
                            "gene": "ACADVL",
                            "preferredMondo": "0008723",
                            "geneOmim": "609575"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC133",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC133",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 14 Aug 2025 23:31:35 -0000",
      "lastAuthor": "Jenkins Charisma"
    },
    "disease": "Hereditary Breast and Ovarian Cancer",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC133",
        "release": {
          "number": "1.0.3",
          "date": "Thu, 14 Aug 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BRCA1",
            "geneOmim": "113705",
            "diseases": [
              {
                "label": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1",
                "omim": "604370",
                "preferredMondo": "0011450"
              }
            ]
          },
          {
            "gene": "BRCA2",
            "geneOmim": "600185",
            "diseases": [
              {
                "label": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2",
                "omim": "612555",
                "preferredMondo": "0012933"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 15 Sep 2021 22:13:45 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1016",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1016",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Mon, 16 Oct 2023 20:13:06 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Medium-chain acyl coenzyme A dehydrogenase deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1016",
        "release": {
          "number": "1.0.3",
          "date": "Mon, 16 Oct 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ACADM",
            "geneOmim": "607008",
            "diseases": [
              {
                "label": "ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD",
                "omim": "201450",
                "preferredMondo": "0008721"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 03 Aug 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity associated with metabolic decompensation",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "201450",
                    "gene": "ACADM",
                    "preferredMondo": "0008721",
                    "geneOmim": "607008"
                  }
                ],
                "severity": "2",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Metabolic management (dietary management and illness protocols)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "201450",
                            "gene": "ACADM",
                            "preferredMondo": "0008721",
                            "geneOmim": "607008"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "11NB"
                      }
                    ]
                  },
                  {
                    "label": "Carnitine therapy when carnitine levels are insufficient",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "201450",
                            "gene": "ACADM",
                            "preferredMondo": "0008721",
                            "geneOmim": "607008"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "0D",
                        "overall": "8ND"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Mortality associated with metabolic decompensation",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "201450",
                    "gene": "ACADM",
                    "preferredMondo": "0008721",
                    "geneOmim": "607008"
                  }
                ],
                "severity": "3",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Metabolic management (dietary management and illness protocols)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "201450",
                            "gene": "ACADM",
                            "preferredMondo": "0008721",
                            "geneOmim": "607008"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "11CB"
                      }
                    ]
                  },
                  {
                    "label": "Carnitine therapy when carnitine levels are insufficient",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "201450",
                            "gene": "ACADM",
                            "preferredMondo": "0008721",
                            "geneOmim": "607008"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "0D",
                        "overall": "8CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1047",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1047",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 03 Aug 2022 20:56:36 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Systemic primary carnitine deficiency disease (SPCD)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1047",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 03 Aug 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SLC22A5",
            "geneOmim": "603377",
            "diseases": [
              {
                "label": "CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP",
                "omim": "212140",
                "preferredMondo": "0008919"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 02 May 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from carnitine deficiency",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "212140",
                    "gene": "SLC22A5",
                    "preferredMondo": "0008919",
                    "geneOmim": "603377"
                  }
                ],
                "severity": "2",
                "likelihood": "2B",
                "interventions": [
                  {
                    "label": "Evaluation by a specialist to guide treatment with levocarnitine supplementation and an illness management protocol",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "212140",
                            "gene": "SLC22A5",
                            "preferredMondo": "0008919",
                            "geneOmim": "603377"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3A",
                        "overall": "10BA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC077",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC077",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:50:38 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Multiple Endocrine Neoplasia Type I",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC077",
        "release": {
          "number": "1.1.5",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "MEN1",
            "geneOmim": "613733",
            "diseases": [
              {
                "label": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1",
                "omim": "131100",
                "preferredMondo": "0007540"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 15 Jan 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity from parathyroid adenoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "131100",
                    "gene": "MEN1",
                    "preferredMondo": "0007540",
                    "geneOmim": "613733"
                  }
                ],
                "severity": "1",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Biochemical surveillance to guide parathyroidectomy decision",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "131100",
                            "gene": "MEN1",
                            "preferredMondo": "0007540",
                            "geneOmim": "613733"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity from other MEN1-related tumors (gastrinoma excluded)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "131100",
                    "gene": "MEN1",
                    "preferredMondo": "0007540",
                    "geneOmim": "613733"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Biochemical surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "131100",
                            "gene": "MEN1",
                            "preferredMondo": "0007540",
                            "geneOmim": "613733"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  },
                  {
                    "label": "Imaging surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "131100",
                            "gene": "MEN1",
                            "preferredMondo": "0007540",
                            "geneOmim": "613733"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1081",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1081",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 23 May 2025 17:43:12 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Sickle Cell Anemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1081",
        "release": {
          "number": "1.0.0",
          "date": "Fri, 23 May 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "HBB",
            "geneOmim": "141900",
            "diseases": [
              {
                "label": "SICKLE CELL DISEASE",
                "omim": "603903",
                "preferredMondo": "0011382"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 08 Nov 2024 00:00:00 -0000",
          "Mon, 12 Jun 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from pneumococcal infection",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "603903",
                    "gene": "HBB",
                    "preferredMondo": "0011382",
                    "geneOmim": "141900"
                  }
                ],
                "severity": "2",
                "likelihood": "2N",
                "interventions": [
                  {
                    "label": "Vaccination and initiation of prophylactic care",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "603903",
                            "gene": "HBB",
                            "preferredMondo": "0011382",
                            "geneOmim": "141900"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3A",
                        "overall": "9NA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from vaso-occlusive crises (including acute chest syndrome)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "603903",
                    "gene": "HBB",
                    "preferredMondo": "0011382",
                    "geneOmim": "141900"
                  }
                ],
                "severity": "2",
                "likelihood": "3A",
                "interventions": [
                  {
                    "label": "Anticipatory guidance and prompt treatment of crises",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "603903",
                            "gene": "HBB",
                            "preferredMondo": "0011382",
                            "geneOmim": "141900"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "9AA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC069",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC069",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:46:25 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Lynch Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC069",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "EPCAM",
            "geneOmim": "185535",
            "diseases": [
              {
                "label": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8",
                "omim": "613244",
                "preferredMondo": "0013196"
              }
            ]
          },
          {
            "gene": "MLH1",
            "geneOmim": "120436",
            "diseases": [
              {
                "label": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2",
                "omim": "609310",
                "preferredMondo": "0012249"
              }
            ]
          },
          {
            "gene": "MSH2",
            "geneOmim": "609309",
            "diseases": [
              {
                "label": "LYNCH SYNDROME I",
                "omim": "120435",
                "preferredMondo": "0007356"
              }
            ]
          },
          {
            "gene": "MSH6",
            "geneOmim": "600678",
            "diseases": [
              {
                "label": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5",
                "omim": "614350",
                "preferredMondo": "0013710"
              }
            ]
          },
          {
            "gene": "PMS2",
            "geneOmim": "600259",
            "diseases": [
              {
                "label": "COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4",
                "omim": "614337",
                "preferredMondo": "0013699"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 15 Sep 2021 22:19:57 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC116",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC116",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Mon, 17 Nov 2025 23:37:50 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Cerebral cavernous malformations 1, 2, and 3",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC116",
        "release": {
          "number": "1.0.0",
          "date": "Mon, 17 Nov 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CCM2",
            "geneOmim": "607929",
            "diseases": [
              {
                "label": "CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2",
                "omim": "603284",
                "preferredMondo": "0011304"
              }
            ]
          },
          {
            "gene": "KRIT1",
            "geneOmim": "604214",
            "diseases": [
              {
                "label": "CEREBRAL CAVERNOUS MALFORMATIONS; CCM",
                "omim": "116860",
                "preferredMondo": "0020724"
              }
            ]
          },
          {
            "gene": "PDCD10",
            "geneOmim": "609118",
            "diseases": [
              {
                "label": "INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE, SUBUNIT BETA; IKBKB",
                "omim": "603258",
                "preferredMondo": "0011305"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 29 Jul 2025 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to familial cerebral cavernous malformation-related complications including hemorrhage",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "116860",
                    "gene": "KRIT1",
                    "preferredMondo": "0020724",
                    "geneOmim": "604214"
                  },
                  {
                    "disOmim": "603284",
                    "gene": "CCM2",
                    "preferredMondo": "0011304",
                    "geneOmim": "607929"
                  },
                  {
                    "disOmim": "603258",
                    "gene": "PDCD10",
                    "preferredMondo": "0011305",
                    "geneOmim": "609118"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Referral to specialist to guide MRI surveillance and treatment (surgery and/or pharmacotherapy)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "116860",
                            "gene": "KRIT1",
                            "preferredMondo": "0020724",
                            "geneOmim": "604214"
                          },
                          {
                            "disOmim": "603284",
                            "gene": "CCM2",
                            "preferredMondo": "0011304",
                            "geneOmim": "607929"
                          },
                          {
                            "disOmim": "603258",
                            "gene": "PDCD10",
                            "preferredMondo": "0011305",
                            "geneOmim": "609118"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "0D",
                        "overall": "6CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC003",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC003",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:21:04 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Wilms tumor",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003",
        "release": {
          "number": "1.2.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "WT1",
            "geneOmim": "607102",
            "diseases": [
              {
                "label": "WILMS TUMOR 1; WT1",
                "omim": "194070",
                "preferredMondo": "0008679"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 17 May 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from WT",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "194070",
                    "gene": "WT1",
                    "preferredMondo": "0008679",
                    "geneOmim": "607102"
                  }
                ],
                "severity": "2",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Surveillance via abdominal ultrasound",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "194070",
                            "gene": "WT1",
                            "preferredMondo": "0008679",
                            "geneOmim": "607102"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "0N",
                        "overall": "7NN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC119",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC119",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 30 Apr 2024 19:03:58 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "CDC73-Related Conditions",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC119",
        "release": {
          "number": "1.0.0",
          "date": "Tue, 30 Apr 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CDC73",
            "geneOmim": "607393",
            "diseases": [
              {
                "label": "HYPERPARATHYROIDISM 1; HRPT1",
                "omim": "145000",
                "preferredMondo": "0007767"
              },
              {
                "label": "HYPERPARATHYROIDISM 2 WITH JAW TUMORS; HRPT2",
                "omim": "145001",
                "preferredMondo": "0007768"
              },
              {
                "label": "PARATHYROID CARCINOMA",
                "omim": "608266",
                "preferredMondo": "0012004"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 28 Nov 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity from CDC73-related non-parathyroid lesions",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "145001",
                    "gene": "CDC73",
                    "preferredMondo": "0007768",
                    "geneOmim": "607393"
                  }
                ],
                "severity": "1",
                "likelihood": "2N",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialists, including imaging surveillance to guide surgery",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "145001",
                            "gene": "CDC73",
                            "preferredMondo": "0007768",
                            "geneOmim": "607393"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "8NC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity from parathyroid adenoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "145001",
                    "gene": "CDC73",
                    "preferredMondo": "0007768",
                    "geneOmim": "607393"
                  },
                  {
                    "disOmim": "608266",
                    "gene": "CDC73",
                    "preferredMondo": "0012004",
                    "geneOmim": "607393"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialists, including biochemical surveillance to guide imaging and parathyroidectomy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "145001",
                            "gene": "CDC73",
                            "preferredMondo": "0007768",
                            "geneOmim": "607393"
                          },
                          {
                            "disOmim": "608266",
                            "gene": "CDC73",
                            "preferredMondo": "0012004",
                            "geneOmim": "607393"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "10CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity from parathyroid carcinoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "145001",
                    "gene": "CDC73",
                    "preferredMondo": "0007768",
                    "geneOmim": "607393"
                  },
                  {
                    "disOmim": "608266",
                    "gene": "CDC73",
                    "preferredMondo": "0012004",
                    "geneOmim": "607393"
                  }
                ],
                "severity": "2",
                "likelihood": "0D",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialists, including biochemical and imaging surveillance to guide surgery",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "145001",
                            "gene": "CDC73",
                            "preferredMondo": "0007768",
                            "geneOmim": "607393"
                          },
                          {
                            "disOmim": "608266",
                            "gene": "CDC73",
                            "preferredMondo": "0012004",
                            "geneOmim": "607393"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "7DC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC002",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC002",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 23 Jul 2024 19:18:39 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "DICER1-Related Disorders",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC002",
        "release": {
          "number": "1.1.5",
          "date": "Tue, 23 Jul 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "DICER1",
            "geneOmim": "606241",
            "diseases": [
              {
                "label": "GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1",
                "omim": "138800",
                "preferredMondo": "0100216"
              },
              {
                "label": "RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2",
                "omim": "180295",
                "preferredMondo": "0100216"
              },
              {
                "label": "PLEUROPULMONARY BLASTOMA; PPB",
                "omim": "601200",
                "preferredMondo": "0100216"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 29 May 2019 00:00:00 -0000",
          "Tue, 01 May 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from  pleuropulmonary blastoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "138800",
                    "gene": "DICER1",
                    "preferredMondo": "0100216",
                    "geneOmim": "606241"
                  },
                  {
                    "disOmim": "180295",
                    "gene": "DICER1",
                    "preferredMondo": "0100216",
                    "geneOmim": "606241"
                  },
                  {
                    "disOmim": "601200",
                    "gene": "DICER1",
                    "preferredMondo": "0100216",
                    "geneOmim": "606241"
                  }
                ],
                "severity": "2",
                "likelihood": "2N",
                "interventions": [
                  {
                    "label": "Chest imaging",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "138800",
                            "gene": "DICER1",
                            "preferredMondo": "0100216",
                            "geneOmim": "606241"
                          },
                          {
                            "disOmim": "180295",
                            "gene": "DICER1",
                            "preferredMondo": "0100216",
                            "geneOmim": "606241"
                          },
                          {
                            "disOmim": "601200",
                            "gene": "DICER1",
                            "preferredMondo": "0100216",
                            "geneOmim": "606241"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "8NB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from thyroid carcinoma and other DICER-related cancers",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "138800",
                    "gene": "DICER1",
                    "preferredMondo": "0100216",
                    "geneOmim": "606241"
                  },
                  {
                    "disOmim": "180295",
                    "gene": "DICER1",
                    "preferredMondo": "0100216",
                    "geneOmim": "606241"
                  },
                  {
                    "disOmim": "601200",
                    "gene": "DICER1",
                    "preferredMondo": "0100216",
                    "geneOmim": "606241"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "138800",
                            "gene": "DICER1",
                            "preferredMondo": "0100216",
                            "geneOmim": "606241"
                          },
                          {
                            "disOmim": "180295",
                            "gene": "DICER1",
                            "preferredMondo": "0100216",
                            "geneOmim": "606241"
                          },
                          {
                            "disOmim": "601200",
                            "gene": "DICER1",
                            "preferredMondo": "0100216",
                            "geneOmim": "606241"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2D",
                        "overall": "8CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC057",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC057",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 03 May 2023 21:10:08 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Heterozygous Familial Hypercholesterolemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC057",
        "release": {
          "number": "1.0.3",
          "date": "Wed, 03 May 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "APOB",
            "geneOmim": "107730",
            "diseases": [
              {
                "label": "HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2",
                "omim": "144010",
                "preferredMondo": "0007751"
              }
            ]
          },
          {
            "gene": "LDLR",
            "geneOmim": "606945",
            "diseases": [
              {
                "label": "HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1",
                "omim": "143890",
                "preferredMondo": "0007750"
              }
            ]
          },
          {
            "gene": "PCSK9",
            "geneOmim": "607786",
            "diseases": [
              {
                "label": "HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3",
                "omim": "603776",
                "preferredMondo": "0011369"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 03 Aug 2020 00:00:00 -0000",
          "Thu, 27 Feb 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Clinical cardiovascular events",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "143890",
                    "gene": "LDLR",
                    "preferredMondo": "0007750",
                    "geneOmim": "606945"
                  },
                  {
                    "disOmim": "144010",
                    "gene": "APOB",
                    "preferredMondo": "0007751",
                    "geneOmim": "107730"
                  },
                  {
                    "disOmim": "603776",
                    "gene": "PCSK9",
                    "preferredMondo": "0011369",
                    "geneOmim": "607786"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Lipid lowering therapy to FH appropriate LDL-C goal",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "143890",
                            "gene": "LDLR",
                            "preferredMondo": "0007750",
                            "geneOmim": "606945"
                          },
                          {
                            "disOmim": "144010",
                            "gene": "APOB",
                            "preferredMondo": "0007751",
                            "geneOmim": "107730"
                          },
                          {
                            "disOmim": "603776",
                            "gene": "PCSK9",
                            "preferredMondo": "0011369",
                            "geneOmim": "607786"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2A",
                        "overall": "10CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC107",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC107",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Sun, 24 Mar 2024 15:03:27 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Hereditary Hemorrhagic Telangiectasia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC107",
        "release": {
          "number": "1.0.2",
          "date": "Sun, 24 Mar 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ACVRL1",
            "geneOmim": "601284",
            "diseases": [
              {
                "label": "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2",
                "omim": "600376",
                "preferredMondo": "0010880"
              }
            ]
          },
          {
            "gene": "ENG",
            "geneOmim": "131195",
            "diseases": [
              {
                "label": "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1",
                "omim": "187300",
                "preferredMondo": "0008535"
              }
            ]
          },
          {
            "gene": "SMAD4",
            "geneOmim": "600993",
            "diseases": [
              {
                "label": "JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT",
                "omim": "175050",
                "preferredMondo": "0008278"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 26 Aug 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from pulmonary AVMs",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "187300",
                    "gene": "ENG",
                    "preferredMondo": "0008535",
                    "geneOmim": "131195"
                  },
                  {
                    "disOmim": "600376",
                    "gene": "ACVRL1",
                    "preferredMondo": "0010880",
                    "geneOmim": "601284"
                  },
                  {
                    "disOmim": "175050",
                    "gene": "SMAD4",
                    "preferredMondo": "0008278",
                    "geneOmim": "600993"
                  }
                ],
                "severity": "2",
                "likelihood": "2N",
                "interventions": [
                  {
                    "label": "Transthoracic contrast echocardiography (TTCE) to detect pulmonary AVM and assess pulmonary arterial hypertension (ACVRL1 or ENG only)",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "187300",
                            "gene": "ENG",
                            "preferredMondo": "0008535",
                            "geneOmim": "131195"
                          },
                          {
                            "disOmim": "600376",
                            "gene": "ACVRL1",
                            "preferredMondo": "0010880",
                            "geneOmim": "601284"
                          },
                          {
                            "disOmim": "175050",
                            "gene": "SMAD4",
                            "preferredMondo": "0008278",
                            "geneOmim": "600993"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3N",
                        "overall": "10NN"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from cerebral AVMs",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "187300",
                    "gene": "ENG",
                    "preferredMondo": "0008535",
                    "geneOmim": "131195"
                  },
                  {
                    "disOmim": "600376",
                    "gene": "ACVRL1",
                    "preferredMondo": "0010880",
                    "geneOmim": "601284"
                  },
                  {
                    "disOmim": "175050",
                    "gene": "SMAD4",
                    "preferredMondo": "0008278",
                    "geneOmim": "600993"
                  }
                ],
                "severity": "2",
                "likelihood": "1C",
                "interventions": [
                  {
                    "label": "Evaluation and surveillance by specialist to guide treatment with discussion about screening for cerebral AVM",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "187300",
                            "gene": "ENG",
                            "preferredMondo": "0008535",
                            "geneOmim": "131195"
                          },
                          {
                            "disOmim": "600376",
                            "gene": "ACVRL1",
                            "preferredMondo": "0010880",
                            "geneOmim": "601284"
                          },
                          {
                            "disOmim": "175050",
                            "gene": "SMAD4",
                            "preferredMondo": "0008278",
                            "geneOmim": "600993"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "7CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1014",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1014",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:13:31 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Gyrate Atrophy",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1014",
        "release": {
          "number": "1.0.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "OAT",
            "geneOmim": "613349",
            "diseases": [
              {
                "label": "GYRATE ATROPHY OF CHOROID AND RETINA; GACR",
                "omim": "258870",
                "preferredMondo": "0009796"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 29 Jun 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Visual impairment",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "258870",
                    "gene": "OAT",
                    "preferredMondo": "0009796",
                    "geneOmim": "613349"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Dietary management including arginine restriction and vitamin/amino acid supplementation",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "258870",
                            "gene": "OAT",
                            "preferredMondo": "0009796",
                            "geneOmim": "613349"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "10CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC005",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC005",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:21:36 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Acrodermatitis enteropathica, zinc-deficiency type",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC005",
        "release": {
          "number": "1.2.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SLC39A4",
            "geneOmim": "607059",
            "diseases": [
              {
                "label": "ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ",
                "omim": "201100",
                "preferredMondo": "0008713"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 09 Jul 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality associated with zinc deficiency",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "201100",
                    "gene": "SLC39A4",
                    "preferredMondo": "0008713",
                    "geneOmim": "607059"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Zinc supplementation",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "201100",
                            "gene": "SLC39A4",
                            "preferredMondo": "0008713",
                            "geneOmim": "607059"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "11CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC004",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC004",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 21 May 2025 19:07:23 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Hypophosphatasia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC004",
        "release": {
          "number": "2.0.0",
          "date": "Wed, 21 May 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ALPL",
            "geneOmim": "171760",
            "diseases": [
              {
                "label": "HYPOPHOSPHATASIA, ADULT; HPPA",
                "omim": "146300",
                "preferredMondo": "0018570"
              },
              {
                "label": "HYPOPHOSPHATASIA, INFANTILE; HPPI",
                "omim": "241500",
                "preferredMondo": "0018570"
              },
              {
                "label": "HYPOPHOSPHATASIA, CHILDHOOD; HPPC",
                "omim": "241510",
                "preferredMondo": "0018570"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 09 Jan 2025 00:00:00 -0000",
          "Thu, 05 Jul 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from hypophosphatasia",
            "scoringGroups": [
              {
                "label": "GroupC",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "241500",
                    "gene": "ALPL",
                    "preferredMondo": "0018570",
                    "geneOmim": "171760"
                  },
                  {
                    "disOmim": "241510",
                    "gene": "ALPL",
                    "preferredMondo": "0018570",
                    "geneOmim": "171760"
                  },
                  {
                    "disOmim": "146300",
                    "gene": "ALPL",
                    "preferredMondo": "0018570",
                    "geneOmim": "171760"
                  }
                ],
                "severity": "1",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to specialist to consider enzyme replacement therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupC",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "241500",
                            "gene": "ALPL",
                            "preferredMondo": "0018570",
                            "geneOmim": "171760"
                          },
                          {
                            "disOmim": "241510",
                            "gene": "ALPL",
                            "preferredMondo": "0018570",
                            "geneOmim": "171760"
                          },
                          {
                            "disOmim": "146300",
                            "gene": "ALPL",
                            "preferredMondo": "0018570",
                            "geneOmim": "171760"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3A",
                        "overall": "9CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC090",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC090",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 28 Jul 2023 17:46:48 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Glycogen Storage Disease 2",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC090",
        "release": {
          "number": "1.0.0",
          "date": "Fri, 28 Jul 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "GAA",
            "geneOmim": "606800",
            "diseases": [
              {
                "label": "GLYCOGEN STORAGE DISEASE II; GSD2",
                "omim": "232300",
                "preferredMondo": "0009290"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 12 May 2023 00:00:00 -0000",
          "Fri, 27 Jan 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to acid alpha-glucosidase deficiency",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "232300",
                    "gene": "GAA",
                    "preferredMondo": "0009290",
                    "geneOmim": "606800"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation by specialists to guide management including enzyme replacement therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "232300",
                            "gene": "GAA",
                            "preferredMondo": "0009290",
                            "geneOmim": "606800"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "9CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC007",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC007",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:22:09 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Cystinosis",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC007",
        "release": {
          "number": "1.2.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CTNS",
            "geneOmim": "606272",
            "diseases": [
              {
                "label": "CYSTINOSIS, NEPHROPATHIC; CTNS",
                "omim": "219800",
                "preferredMondo": "0016239"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 27 Nov 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Incomplete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "End-Stage Renal Disease (ESRD)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "219800",
                    "gene": "CTNS",
                    "preferredMondo": "0016239",
                    "geneOmim": "606272"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Oral cysteamine",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "219800",
                            "gene": "CTNS",
                            "preferredMondo": "0016239",
                            "geneOmim": "606272"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Corneal crystals",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "219800",
                    "gene": "CTNS",
                    "preferredMondo": "0016239",
                    "geneOmim": "606272"
                  }
                ],
                "severity": "1",
                "likelihood": "3D",
                "interventions": [
                  {
                    "label": "Ophthalmic cysteamine",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "219800",
                            "gene": "CTNS",
                            "preferredMondo": "0016239",
                            "geneOmim": "606272"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "8DB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC047",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC047",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:37:17 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Fabry Disease",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC047",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "GLA",
            "geneOmim": "300644",
            "diseases": [
              {
                "label": "FABRY DISEASE",
                "omim": "301500",
                "preferredMondo": "0010526"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 11 Dec 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Cardiovascular disease (males)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "301500",
                    "gene": "GLA",
                    "preferredMondo": "0010526",
                    "geneOmim": "300644"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with agalsidase alpha or beta",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "301500",
                            "gene": "GLA",
                            "preferredMondo": "0010526",
                            "geneOmim": "300644"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "9CA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Cardiovascular disease (females)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "301500",
                    "gene": "GLA",
                    "preferredMondo": "0010526",
                    "geneOmim": "300644"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with agalsidase alpha or beta",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "301500",
                            "gene": "GLA",
                            "preferredMondo": "0010526",
                            "geneOmim": "300644"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "8CA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Cerebrovascular events (males)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "301500",
                    "gene": "GLA",
                    "preferredMondo": "0010526",
                    "geneOmim": "300644"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with agalsidase alpha or beta",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "301500",
                            "gene": "GLA",
                            "preferredMondo": "0010526",
                            "geneOmim": "300644"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "8CA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Cerebrovascular events (females)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "301500",
                    "gene": "GLA",
                    "preferredMondo": "0010526",
                    "geneOmim": "300644"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with agalsidase alpha or beta",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "301500",
                            "gene": "GLA",
                            "preferredMondo": "0010526",
                            "geneOmim": "300644"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "8CA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "End-stage renal disease (males)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "301500",
                    "gene": "GLA",
                    "preferredMondo": "0010526",
                    "geneOmim": "300644"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with agalsidase alpha or beta",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "301500",
                            "gene": "GLA",
                            "preferredMondo": "0010526",
                            "geneOmim": "300644"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "8CA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "End-stage renal disease (females)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "301500",
                    "gene": "GLA",
                    "preferredMondo": "0010526",
                    "geneOmim": "300644"
                  }
                ],
                "severity": "2",
                "likelihood": "1C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy (ERT) with agalsidase alpha or beta",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "301500",
                            "gene": "GLA",
                            "preferredMondo": "0010526",
                            "geneOmim": "300644"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2D",
                        "overall": "7CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC009",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC009",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:23:17 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Hypophosphatemic rickets, X-linked dominant",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC009",
        "release": {
          "number": "1.2.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PHEX",
            "geneOmim": "300550",
            "diseases": [
              {
                "label": "HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR",
                "omim": "307800",
                "preferredMondo": "0010619"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 05 Nov 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity of XLHR (rickets, growth, bone/joint pain)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "307800",
                    "gene": "PHEX",
                    "preferredMondo": "0010619",
                    "geneOmim": "300550"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Oral phosphate plus vitamin D analog supplements",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "307800",
                            "gene": "PHEX",
                            "preferredMondo": "0010619",
                            "geneOmim": "300550"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Rickets",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "307800",
                    "gene": "PHEX",
                    "preferredMondo": "0010619",
                    "geneOmim": "300550"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Borusumab",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "307800",
                            "gene": "PHEX",
                            "preferredMondo": "0010619",
                            "geneOmim": "300550"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2N",
                        "overall": "9CN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1065",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1065",
    "curationType": "Variant-Condition",
    "metadata": {
      "lastUpdated": "Fri, 07 Feb 2025 21:38:26 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Klinefelter Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1065",
        "release": {
          "number": "1.0.0",
          "date": "Fri, 07 Feb 2025 00:00:00 -0000"
        },
        "variants": [
          {
            "id": "CACN36920366, CACN52853040",
            "descriptor": [
              "GRCh38 (chrX:?_2782275-155611794_?)x2",
              "GRCh38 (chrY:1-57227415)x1"
            ],
            "description": "47,XXY",
            "variantType": "Aneuploidy",
            "diseases": [
              {
                "preferredMondo": "0006823"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 24 May 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Infertility",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "preferredMondo": "0006823",
                    "variantId": "CACN36920366, CACN52853040",
                    "descriptor": [
                      "GRCh38 (chrX:?_2782275-155611794_?)x2",
                      "GRCh38 (chrY:1-57227415)x1"
                    ],
                    "description": "47,XXY",
                    "vuuid": "f32f6a22-7a5d-56f4-a5ab-3dc58f90a633"
                  }
                ],
                "severity": "1",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Discussion in adolescence about infertility and potential for semen collection or testicular sperm extraction (TESE) and cryopreservation",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "preferredMondo": "0006823",
                            "variantId": "CACN36920366, CACN52853040",
                            "descriptor": [
                              "GRCh38 (chrX:?_2782275-155611794_?)x2",
                              "GRCh38 (chrY:1-57227415)x1"
                            ],
                            "description": "47,XXY",
                            "vuuid": "f32f6a22-7a5d-56f4-a5ab-3dc58f90a633"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "8CA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Endocrinologic morbidity",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "preferredMondo": "0006823",
                    "variantId": "CACN36920366, CACN52853040",
                    "descriptor": [
                      "GRCh38 (chrX:?_2782275-155611794_?)x2",
                      "GRCh38 (chrY:1-57227415)x1"
                    ],
                    "description": "47,XXY",
                    "vuuid": "f32f6a22-7a5d-56f4-a5ab-3dc58f90a633"
                  }
                ],
                "severity": "1",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Surveillance by specialist to identify and treat endocrinologic dysfunction",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "preferredMondo": "0006823",
                            "variantId": "CACN36920366, CACN52853040",
                            "descriptor": [
                              "GRCh38 (chrX:?_2782275-155611794_?)x2",
                              "GRCh38 (chrY:1-57227415)x1"
                            ],
                            "description": "47,XXY",
                            "vuuid": "f32f6a22-7a5d-56f4-a5ab-3dc58f90a633"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC134",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC134",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:51:16 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Familial thoracic aortic aneurysms and dissections (FTAAD)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134",
        "release": {
          "number": "1.0.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ACTA2",
            "geneOmim": "102620",
            "diseases": [
              {
                "label": "AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6",
                "omim": "611788",
                "preferredMondo": "0019625"
              }
            ]
          },
          {
            "gene": "FBN1",
            "geneOmim": "134797",
            "diseases": [
              {
                "label": "MARFAN SYNDROME; MFS",
                "omim": "154700",
                "preferredMondo": "0019625"
              }
            ]
          },
          {
            "gene": "LOX",
            "geneOmim": "153455",
            "diseases": [
              {
                "label": "AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10",
                "omim": "617168",
                "preferredMondo": "0019625"
              }
            ]
          },
          {
            "gene": "MYH11",
            "geneOmim": "160745",
            "diseases": [
              {
                "label": "AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4",
                "omim": "132900",
                "preferredMondo": "0019625"
              }
            ]
          },
          {
            "gene": "PRKG1",
            "geneOmim": "176894",
            "diseases": [
              {
                "label": "AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8",
                "omim": "615436",
                "preferredMondo": "0019625"
              }
            ]
          },
          {
            "gene": "SMAD3",
            "geneOmim": "603109",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 3; LDS3",
                "omim": "613795",
                "preferredMondo": "0019625"
              }
            ]
          },
          {
            "gene": "TGFB2",
            "geneOmim": "190220",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 4; LDS4",
                "omim": "614816",
                "preferredMondo": "0019625"
              }
            ]
          },
          {
            "gene": "TGFBR1",
            "geneOmim": "190181",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 1; LDS1",
                "omim": "609192",
                "preferredMondo": "0019625"
              }
            ]
          },
          {
            "gene": "TGFBR2",
            "geneOmim": "190182",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 2; LDS2",
                "omim": "610168",
                "preferredMondo": "0019625"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 01 Mar 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Clinically significant aortic aneurysm",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "611788",
                    "gene": "ACTA2",
                    "preferredMondo": "0019625",
                    "geneOmim": "102620"
                  },
                  {
                    "disOmim": "154700",
                    "gene": "FBN1",
                    "preferredMondo": "0019625",
                    "geneOmim": "134797"
                  },
                  {
                    "disOmim": "617168",
                    "gene": "LOX",
                    "preferredMondo": "0019625",
                    "geneOmim": "153455"
                  },
                  {
                    "disOmim": "132900",
                    "gene": "MYH11",
                    "preferredMondo": "0019625",
                    "geneOmim": "160745"
                  },
                  {
                    "disOmim": "615436",
                    "gene": "PRKG1",
                    "preferredMondo": "0019625",
                    "geneOmim": "176894"
                  },
                  {
                    "disOmim": "613795",
                    "gene": "SMAD3",
                    "preferredMondo": "0019625",
                    "geneOmim": "603109"
                  },
                  {
                    "disOmim": "614816",
                    "gene": "TGFB2",
                    "preferredMondo": "0019625",
                    "geneOmim": "190220"
                  },
                  {
                    "disOmim": "609192",
                    "gene": "TGFBR1",
                    "preferredMondo": "0019625",
                    "geneOmim": "190181"
                  },
                  {
                    "disOmim": "610168",
                    "gene": "TGFBR2",
                    "preferredMondo": "0019625",
                    "geneOmim": "190182"
                  }
                ],
                "severity": "3",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Aortic surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "611788",
                            "gene": "ACTA2",
                            "preferredMondo": "0019625",
                            "geneOmim": "102620"
                          },
                          {
                            "disOmim": "154700",
                            "gene": "FBN1",
                            "preferredMondo": "0019625",
                            "geneOmim": "134797"
                          },
                          {
                            "disOmim": "617168",
                            "gene": "LOX",
                            "preferredMondo": "0019625",
                            "geneOmim": "153455"
                          },
                          {
                            "disOmim": "132900",
                            "gene": "MYH11",
                            "preferredMondo": "0019625",
                            "geneOmim": "160745"
                          },
                          {
                            "disOmim": "615436",
                            "gene": "PRKG1",
                            "preferredMondo": "0019625",
                            "geneOmim": "176894"
                          },
                          {
                            "disOmim": "613795",
                            "gene": "SMAD3",
                            "preferredMondo": "0019625",
                            "geneOmim": "603109"
                          },
                          {
                            "disOmim": "614816",
                            "gene": "TGFB2",
                            "preferredMondo": "0019625",
                            "geneOmim": "190220"
                          },
                          {
                            "disOmim": "609192",
                            "gene": "TGFBR1",
                            "preferredMondo": "0019625",
                            "geneOmim": "190181"
                          },
                          {
                            "disOmim": "610168",
                            "gene": "TGFBR2",
                            "preferredMondo": "0019625",
                            "geneOmim": "190182"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "12CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Aortic dilation progression",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "611788",
                    "gene": "ACTA2",
                    "preferredMondo": "0019625",
                    "geneOmim": "102620"
                  },
                  {
                    "disOmim": "154700",
                    "gene": "FBN1",
                    "preferredMondo": "0019625",
                    "geneOmim": "134797"
                  },
                  {
                    "disOmim": "617168",
                    "gene": "LOX",
                    "preferredMondo": "0019625",
                    "geneOmim": "153455"
                  },
                  {
                    "disOmim": "132900",
                    "gene": "MYH11",
                    "preferredMondo": "0019625",
                    "geneOmim": "160745"
                  },
                  {
                    "disOmim": "615436",
                    "gene": "PRKG1",
                    "preferredMondo": "0019625",
                    "geneOmim": "176894"
                  },
                  {
                    "disOmim": "613795",
                    "gene": "SMAD3",
                    "preferredMondo": "0019625",
                    "geneOmim": "603109"
                  },
                  {
                    "disOmim": "614816",
                    "gene": "TGFB2",
                    "preferredMondo": "0019625",
                    "geneOmim": "190220"
                  },
                  {
                    "disOmim": "609192",
                    "gene": "TGFBR1",
                    "preferredMondo": "0019625",
                    "geneOmim": "190181"
                  },
                  {
                    "disOmim": "610168",
                    "gene": "TGFBR2",
                    "preferredMondo": "0019625",
                    "geneOmim": "190182"
                  }
                ],
                "severity": "3",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Pharmacotherapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "611788",
                            "gene": "ACTA2",
                            "preferredMondo": "0019625",
                            "geneOmim": "102620"
                          },
                          {
                            "disOmim": "154700",
                            "gene": "FBN1",
                            "preferredMondo": "0019625",
                            "geneOmim": "134797"
                          },
                          {
                            "disOmim": "617168",
                            "gene": "LOX",
                            "preferredMondo": "0019625",
                            "geneOmim": "153455"
                          },
                          {
                            "disOmim": "132900",
                            "gene": "MYH11",
                            "preferredMondo": "0019625",
                            "geneOmim": "160745"
                          },
                          {
                            "disOmim": "615436",
                            "gene": "PRKG1",
                            "preferredMondo": "0019625",
                            "geneOmim": "176894"
                          },
                          {
                            "disOmim": "613795",
                            "gene": "SMAD3",
                            "preferredMondo": "0019625",
                            "geneOmim": "603109"
                          },
                          {
                            "disOmim": "614816",
                            "gene": "TGFB2",
                            "preferredMondo": "0019625",
                            "geneOmim": "190220"
                          },
                          {
                            "disOmim": "609192",
                            "gene": "TGFBR1",
                            "preferredMondo": "0019625",
                            "geneOmim": "190181"
                          },
                          {
                            "disOmim": "610168",
                            "gene": "TGFBR2",
                            "preferredMondo": "0019625",
                            "geneOmim": "190182"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "11CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC129",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC129",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 16 Aug 2024 16:00:25 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Charcot - Marie - Tooth Disease, Type 1",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129",
        "release": {
          "number": "1.0.0",
          "date": "Fri, 16 Aug 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "EGR2",
            "geneOmim": "129010",
            "diseases": [
              {
                "label": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D",
                "omim": "607678",
                "preferredMondo": "0019011"
              }
            ]
          },
          {
            "gene": "LITAF",
            "geneOmim": "603795",
            "diseases": [
              {
                "label": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C",
                "omim": "601098",
                "preferredMondo": "0019011"
              }
            ]
          },
          {
            "gene": "MPZ",
            "geneOmim": "159440",
            "diseases": [
              {
                "label": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B",
                "omim": "118200",
                "preferredMondo": "0019011"
              }
            ]
          },
          {
            "gene": "NEFL",
            "geneOmim": "162280",
            "diseases": [
              {
                "label": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F",
                "omim": "607734",
                "preferredMondo": "0019011"
              }
            ]
          },
          {
            "gene": "PMP22",
            "geneOmim": "601097",
            "diseases": [
              {
                "label": "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A",
                "omim": "118220",
                "preferredMondo": "0019011"
              },
              {
                "label": "CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS",
                "omim": "118300",
                "preferredMondo": "0019011"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 19 Mar 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Impairments in muscle strength, range of motion, mobility, and balance",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "118220",
                    "gene": "PMP22",
                    "preferredMondo": "0019011",
                    "geneOmim": "601097"
                  },
                  {
                    "disOmim": "118300",
                    "gene": "PMP22",
                    "preferredMondo": "0019011",
                    "geneOmim": "601097"
                  },
                  {
                    "disOmim": "118200",
                    "gene": "MPZ",
                    "preferredMondo": "0019011",
                    "geneOmim": "159440"
                  },
                  {
                    "disOmim": "601098",
                    "gene": "LITAF",
                    "preferredMondo": "0019011",
                    "geneOmim": "603795"
                  },
                  {
                    "disOmim": "607678",
                    "gene": "EGR2",
                    "preferredMondo": "0019011",
                    "geneOmim": "129010"
                  },
                  {
                    "disOmim": "607734",
                    "gene": "NEFL",
                    "preferredMondo": "0019011",
                    "geneOmim": "162280"
                  }
                ],
                "severity": "1",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Evaluation by specialists to guide exercise and strength training programs",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "118220",
                            "gene": "PMP22",
                            "preferredMondo": "0019011",
                            "geneOmim": "601097"
                          },
                          {
                            "disOmim": "118300",
                            "gene": "PMP22",
                            "preferredMondo": "0019011",
                            "geneOmim": "601097"
                          },
                          {
                            "disOmim": "118200",
                            "gene": "MPZ",
                            "preferredMondo": "0019011",
                            "geneOmim": "159440"
                          },
                          {
                            "disOmim": "601098",
                            "gene": "LITAF",
                            "preferredMondo": "0019011",
                            "geneOmim": "603795"
                          },
                          {
                            "disOmim": "607678",
                            "gene": "EGR2",
                            "preferredMondo": "0019011",
                            "geneOmim": "129010"
                          },
                          {
                            "disOmim": "607734",
                            "gene": "NEFL",
                            "preferredMondo": "0019011",
                            "geneOmim": "162280"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "1A",
                        "overall": "8NA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Demyelinating peripheral neuropathy",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "118220",
                    "gene": "PMP22",
                    "preferredMondo": "0019011",
                    "geneOmim": "601097"
                  },
                  {
                    "disOmim": "118300",
                    "gene": "PMP22",
                    "preferredMondo": "0019011",
                    "geneOmim": "601097"
                  },
                  {
                    "disOmim": "118200",
                    "gene": "MPZ",
                    "preferredMondo": "0019011",
                    "geneOmim": "159440"
                  },
                  {
                    "disOmim": "601098",
                    "gene": "LITAF",
                    "preferredMondo": "0019011",
                    "geneOmim": "603795"
                  },
                  {
                    "disOmim": "607678",
                    "gene": "EGR2",
                    "preferredMondo": "0019011",
                    "geneOmim": "129010"
                  },
                  {
                    "disOmim": "607734",
                    "gene": "NEFL",
                    "preferredMondo": "0019011",
                    "geneOmim": "162280"
                  }
                ],
                "severity": "1",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Avoidance of neurotoxic drugs",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "118220",
                            "gene": "PMP22",
                            "preferredMondo": "0019011",
                            "geneOmim": "601097"
                          },
                          {
                            "disOmim": "118300",
                            "gene": "PMP22",
                            "preferredMondo": "0019011",
                            "geneOmim": "601097"
                          },
                          {
                            "disOmim": "118200",
                            "gene": "MPZ",
                            "preferredMondo": "0019011",
                            "geneOmim": "159440"
                          },
                          {
                            "disOmim": "601098",
                            "gene": "LITAF",
                            "preferredMondo": "0019011",
                            "geneOmim": "603795"
                          },
                          {
                            "disOmim": "607678",
                            "gene": "EGR2",
                            "preferredMondo": "0019011",
                            "geneOmim": "129010"
                          },
                          {
                            "disOmim": "607734",
                            "gene": "NEFL",
                            "preferredMondo": "0019011",
                            "geneOmim": "162280"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "1B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC154",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC154",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 06 Mar 2026 00:35:59 -0000",
      "lastAuthor": "Gilmore Mari"
    },
    "disease": "Hereditary mixed polyposis syndrome 1",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC154",
        "release": {
          "number": "1.0.0",
          "date": "Thu, 05 Mar 2026 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "GREM1",
            "geneOmim": "603054",
            "diseases": [
              {
                "label": "POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1",
                "omim": "601228",
                "preferredMondo": "0042486"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 04 Mar 2026 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1056",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1056",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 27 Apr 2023 19:22:52 -0000",
      "lastAuthor": "Henninger Michelle"
    },
    "disease": "N-Acetyl Glutamate Synthase Deficiency (NAGSD)",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1056",
        "release": {
          "number": "1.0.0",
          "date": "Thu, 27 Apr 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "NAGS",
            "geneOmim": "608300",
            "diseases": [
              {
                "label": "N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD",
                "omim": "237310",
                "preferredMondo": "0009377"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 03 Jan 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to hyperammonemia",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "237310",
                    "gene": "NAGS",
                    "preferredMondo": "0009377",
                    "geneOmim": "608300"
                  }
                ],
                "severity": "2",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Referral to a specialist to guide management, including N-carbamylglutamate, diet, and emergency planning",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "237310",
                            "gene": "NAGS",
                            "preferredMondo": "0009377",
                            "geneOmim": "608300"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3C",
                        "overall": "10NC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC075",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC075",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 14 Jan 2026 00:01:43 -0000",
      "lastAuthor": "Jenkins Charisma"
    },
    "disease": "Maturity Onset Diabetes of the Young Type I & Type III",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC075",
        "release": {
          "number": "1.0.1",
          "date": "Tue, 13 Jan 2026 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "HNF1A",
            "geneOmim": "142410",
            "diseases": [
              {
                "label": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3",
                "omim": "600496",
                "preferredMondo": "0010894"
              }
            ]
          },
          {
            "gene": "HNF4A",
            "geneOmim": "600281",
            "diseases": [
              {
                "label": "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1",
                "omim": "125850",
                "preferredMondo": "0007452"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 22 Dec 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Diabetes-related morbidity and mortality (HNF1A)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "600496",
                    "gene": "HNF1A",
                    "preferredMondo": "0010894",
                    "geneOmim": "142410"
                  }
                ],
                "severity": "1",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Evaluation by specialist to guide treatment with sulfonylureas",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "600496",
                            "gene": "HNF1A",
                            "preferredMondo": "0010894",
                            "geneOmim": "142410"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "10NC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Diabetes-related morbidity and mortality (HNF4A)",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "125850",
                    "gene": "HNF4A",
                    "preferredMondo": "0007452",
                    "geneOmim": "600281"
                  }
                ],
                "severity": "1",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Evaluation by specialist to guide treatment with sulfonylureas",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "125850",
                            "gene": "HNF4A",
                            "preferredMondo": "0007452",
                            "geneOmim": "600281"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "10NC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC114",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC114",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:38:32 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Hemochromatosis, Type 1",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC114",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "HFE",
            "geneOmim": "613609",
            "diseases": [
              {
                "label": "HEMOCHROMATOSIS, TYPE 1; HFE1",
                "omim": "235200",
                "preferredMondo": "0021001"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 18 Nov 2021 04:23:26 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC131",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC131",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 14 Jan 2026 19:40:38 -0000",
      "lastAuthor": "Jenkins Charisma"
    },
    "disease": "Long QT Syndrome, types 1, 2, and 3",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC131",
        "release": {
          "number": "1.0.4",
          "date": "Wed, 14 Jan 2026 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "KCNH2",
            "geneOmim": "152427",
            "diseases": [
              {
                "label": "LONG QT SYNDROME 2; LQT2",
                "omim": "613688",
                "preferredMondo": "0013367"
              }
            ]
          },
          {
            "gene": "KCNQ1",
            "geneOmim": "607542",
            "diseases": [
              {
                "label": "LONG QT SYNDROME 1; LQT1",
                "omim": "192500",
                "preferredMondo": "0100316"
              }
            ]
          },
          {
            "gene": "SCN5A",
            "geneOmim": "600163",
            "diseases": [
              {
                "label": "LONG QT SYNDROME 3; LQT3",
                "omim": "603830",
                "preferredMondo": "0011377"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 28 Aug 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Sudden cardiac death (KCNQ1 KCNH2)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "192500",
                    "gene": "KCNQ1",
                    "preferredMondo": "0100316",
                    "geneOmim": "607542"
                  },
                  {
                    "disOmim": "613688",
                    "gene": "KCNH2",
                    "preferredMondo": "0013367",
                    "geneOmim": "152427"
                  }
                ],
                "severity": "3",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Beta blockers",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "192500",
                            "gene": "KCNQ1",
                            "preferredMondo": "0100316",
                            "geneOmim": "607542"
                          },
                          {
                            "disOmim": "613688",
                            "gene": "KCNH2",
                            "preferredMondo": "0013367",
                            "geneOmim": "152427"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3A",
                        "overall": "11CA"
                      }
                    ]
                  },
                  {
                    "label": "Avoidance of QT-prolonging medications",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "192500",
                            "gene": "KCNQ1",
                            "preferredMondo": "0100316",
                            "geneOmim": "607542"
                          },
                          {
                            "disOmim": "613688",
                            "gene": "KCNH2",
                            "preferredMondo": "0013367",
                            "geneOmim": "152427"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2N",
                        "overall": "10CN"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Sudden cardiac death (SCN5A)",
            "scoringGroups": [
              {
                "label": "GroupB",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "603830",
                    "gene": "SCN5A",
                    "preferredMondo": "0011377",
                    "geneOmim": "600163"
                  }
                ],
                "severity": "3",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Beta blockers",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "603830",
                            "gene": "SCN5A",
                            "preferredMondo": "0011377",
                            "geneOmim": "600163"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2A",
                        "overall": "10CA"
                      }
                    ]
                  },
                  {
                    "label": "Avoidance of QT-prolonging medications",
                    "scoringGroups": [
                      {
                        "label": "GroupB",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "603830",
                            "gene": "SCN5A",
                            "preferredMondo": "0011377",
                            "geneOmim": "600163"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3N",
                        "overall": "11CN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1008",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1008",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 23 Sep 2025 22:24:52 -0000",
      "lastAuthor": "Jenkins Charisma"
    },
    "disease": "Fanconi Anemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008",
        "release": {
          "number": "1.1.0",
          "date": "Tue, 23 Sep 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BRCA2",
            "geneOmim": "600185",
            "diseases": [
              {
                "label": "FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1",
                "omim": "605724",
                "preferredMondo": "0011584"
              }
            ]
          },
          {
            "gene": "BRIP1",
            "geneOmim": "605882",
            "diseases": [
              {
                "label": "FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ",
                "omim": "609054",
                "preferredMondo": "0012187"
              }
            ]
          },
          {
            "gene": "FANCA",
            "geneOmim": "607139",
            "diseases": [
              {
                "label": "FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA",
                "omim": "227650",
                "preferredMondo": "0009215"
              }
            ]
          },
          {
            "gene": "FANCC",
            "geneOmim": "613899",
            "diseases": [
              {
                "label": "FANCC GENE; FANCC",
                "omim": "613899",
                "preferredMondo": "0009213"
              }
            ]
          },
          {
            "gene": "FANCG",
            "geneOmim": "602956",
            "diseases": [
              {
                "label": "FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG",
                "omim": "614082",
                "preferredMondo": "0013565"
              }
            ]
          },
          {
            "gene": "PALB2",
            "geneOmim": "610355",
            "diseases": [
              {
                "label": "FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN",
                "omim": "610832",
                "preferredMondo": "0012565"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 28 Oct 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to bone marrow failure",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "227650",
                    "gene": "FANCA",
                    "preferredMondo": "0009215",
                    "geneOmim": "607139"
                  },
                  {
                    "disOmim": "605724",
                    "gene": "BRCA2",
                    "preferredMondo": "0011584",
                    "geneOmim": "600185"
                  },
                  {
                    "disOmim": "614082",
                    "gene": "FANCG",
                    "preferredMondo": "0013565",
                    "geneOmim": "602956"
                  },
                  {
                    "disOmim": "609054",
                    "gene": "BRIP1",
                    "preferredMondo": "0012187",
                    "geneOmim": "605882"
                  },
                  {
                    "disOmim": "613899",
                    "gene": "FANCC",
                    "preferredMondo": "0009213",
                    "geneOmim": "613899"
                  },
                  {
                    "disOmim": "610832",
                    "gene": "PALB2",
                    "preferredMondo": "0012565",
                    "geneOmim": "610355"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "227650",
                            "gene": "FANCA",
                            "preferredMondo": "0009215",
                            "geneOmim": "607139"
                          },
                          {
                            "disOmim": "605724",
                            "gene": "BRCA2",
                            "preferredMondo": "0011584",
                            "geneOmim": "600185"
                          },
                          {
                            "disOmim": "614082",
                            "gene": "FANCG",
                            "preferredMondo": "0013565",
                            "geneOmim": "602956"
                          },
                          {
                            "disOmim": "609054",
                            "gene": "BRIP1",
                            "preferredMondo": "0012187",
                            "geneOmim": "605882"
                          },
                          {
                            "disOmim": "613899",
                            "gene": "FANCC",
                            "preferredMondo": "0009213",
                            "geneOmim": "613899"
                          },
                          {
                            "disOmim": "610832",
                            "gene": "PALB2",
                            "preferredMondo": "0012565",
                            "geneOmim": "610355"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity due to FA-related solid tumors",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "227650",
                    "gene": "FANCA",
                    "preferredMondo": "0009215",
                    "geneOmim": "607139"
                  },
                  {
                    "disOmim": "605724",
                    "gene": "BRCA2",
                    "preferredMondo": "0011584",
                    "geneOmim": "600185"
                  },
                  {
                    "disOmim": "614082",
                    "gene": "FANCG",
                    "preferredMondo": "0013565",
                    "geneOmim": "602956"
                  },
                  {
                    "disOmim": "609054",
                    "gene": "BRIP1",
                    "preferredMondo": "0012187",
                    "geneOmim": "605882"
                  },
                  {
                    "disOmim": "613899",
                    "gene": "FANCC",
                    "preferredMondo": "0009213",
                    "geneOmim": "613899"
                  },
                  {
                    "disOmim": "610832",
                    "gene": "PALB2",
                    "preferredMondo": "0012565",
                    "geneOmim": "610355"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Evaluation by provider with experience in FA to detect solid tumors and initiate treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "227650",
                            "gene": "FANCA",
                            "preferredMondo": "0009215",
                            "geneOmim": "607139"
                          },
                          {
                            "disOmim": "605724",
                            "gene": "BRCA2",
                            "preferredMondo": "0011584",
                            "geneOmim": "600185"
                          },
                          {
                            "disOmim": "614082",
                            "gene": "FANCG",
                            "preferredMondo": "0013565",
                            "geneOmim": "602956"
                          },
                          {
                            "disOmim": "609054",
                            "gene": "BRIP1",
                            "preferredMondo": "0012187",
                            "geneOmim": "605882"
                          },
                          {
                            "disOmim": "613899",
                            "gene": "FANCC",
                            "preferredMondo": "0009213",
                            "geneOmim": "613899"
                          },
                          {
                            "disOmim": "610832",
                            "gene": "PALB2",
                            "preferredMondo": "0012565",
                            "geneOmim": "610355"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "1C",
                        "overall": "8CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC098",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC098",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 28 Jun 2023 17:14:43 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Biotinidase Deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC098",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 28 Jun 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "BTD",
            "geneOmim": "609019",
            "diseases": [
              {
                "label": "BIOTINIDASE DEFICIENCY",
                "omim": "253260",
                "preferredMondo": "0009665"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 31 May 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Incomplete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from biotin deficiency",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "253260",
                    "gene": "BTD",
                    "preferredMondo": "0009665",
                    "geneOmim": "609019"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to a metabolic specialist for evaluation and biotin supplementation",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "253260",
                            "gene": "BTD",
                            "preferredMondo": "0009665",
                            "geneOmim": "609019"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "11CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC006",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC006",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 06 Apr 2022 22:00:35 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Mucopolysaccharidosis type I",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC006",
        "release": {
          "number": "1.1.3",
          "date": "Wed, 06 Apr 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "IDUA",
            "geneOmim": "252800",
            "diseases": [
              {
                "label": "HURLER SYNDROME",
                "omim": "607014",
                "preferredMondo": "0001586"
              },
              {
                "label": "HURLER-SCHEIE SYNDROME",
                "omim": "607015",
                "preferredMondo": "0001586"
              },
              {
                "label": "SCHEIE SYNDROME",
                "omim": "607016",
                "preferredMondo": "0001586"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 08 Aug 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Severe neurocognitive delay",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "607014",
                    "gene": "IDUA",
                    "preferredMondo": "0001586",
                    "geneOmim": "252800"
                  },
                  {
                    "disOmim": "607015",
                    "gene": "IDUA",
                    "preferredMondo": "0001586",
                    "geneOmim": "252800"
                  },
                  {
                    "disOmim": "607016",
                    "gene": "IDUA",
                    "preferredMondo": "0001586",
                    "geneOmim": "252800"
                  }
                ],
                "severity": "2",
                "likelihood": "3A",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "607014",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          },
                          {
                            "disOmim": "607015",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          },
                          {
                            "disOmim": "607016",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "0A",
                        "overall": "7AA"
                      }
                    ]
                  },
                  {
                    "label": "Hematopoietic stem cell transplantation before age 2.5 years",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "607014",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          },
                          {
                            "disOmim": "607015",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          },
                          {
                            "disOmim": "607016",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          }
                        ],
                        "natureOfIntervention": "1",
                        "effectiveness": "2B",
                        "overall": "8AB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Death due to cardiorespiratory failure",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "607014",
                    "gene": "IDUA",
                    "preferredMondo": "0001586",
                    "geneOmim": "252800"
                  },
                  {
                    "disOmim": "607015",
                    "gene": "IDUA",
                    "preferredMondo": "0001586",
                    "geneOmim": "252800"
                  },
                  {
                    "disOmim": "607016",
                    "gene": "IDUA",
                    "preferredMondo": "0001586",
                    "geneOmim": "252800"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Enzyme replacement therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "607014",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          },
                          {
                            "disOmim": "607015",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          },
                          {
                            "disOmim": "607016",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "1B",
                        "overall": "8CB"
                      }
                    ]
                  },
                  {
                    "label": "Hematopoietic stem cell transplantation before age 2.5 years",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "607014",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          },
                          {
                            "disOmim": "607015",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          },
                          {
                            "disOmim": "607016",
                            "gene": "IDUA",
                            "preferredMondo": "0001586",
                            "geneOmim": "252800"
                          }
                        ],
                        "natureOfIntervention": "1",
                        "effectiveness": "2B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1026",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1026",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:24:29 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Noonan syndrome-like with loose anagen hair",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1026",
        "release": {
          "number": "1.0.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PPP1CB",
            "geneOmim": "600590",
            "diseases": [
              {
                "label": "NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2",
                "omim": "617506",
                "preferredMondo": "0011899"
              }
            ]
          },
          {
            "gene": "SHOC2",
            "geneOmim": "602775",
            "diseases": [
              {
                "label": "NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1",
                "omim": "607721",
                "preferredMondo": "0011899"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 01 Jun 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC068",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC068",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Sun, 24 Mar 2024 15:00:29 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Li-Fraumeni Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC068",
        "release": {
          "number": "1.0.3",
          "date": "Sun, 24 Mar 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "TP53",
            "geneOmim": "191170",
            "diseases": [
              {
                "label": "LI-FRAUMENI SYNDROME; LFS",
                "omim": "151623",
                "preferredMondo": "0018875"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 26 Mar 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from Li Fraumeni syndrome-associated cancers",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "151623",
                    "gene": "TP53",
                    "preferredMondo": "0018875",
                    "geneOmim": "191170"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Cancer surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "151623",
                            "gene": "TP53",
                            "preferredMondo": "0018875",
                            "geneOmim": "191170"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  },
                  {
                    "label": "Avoidance of radiotherapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "151623",
                            "gene": "TP53",
                            "preferredMondo": "0018875",
                            "geneOmim": "191170"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "0B",
                        "overall": "8CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC027",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC027",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Thu, 17 Mar 2022 19:30:12 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Von Hippel-Lindau Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC027",
        "release": {
          "number": "1.0.0",
          "date": "Thu, 17 Mar 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "VHL",
            "geneOmim": "608537",
            "diseases": [
              {
                "label": "VON HIPPEL-LINDAU SYNDROME; VHLS",
                "omim": "193300",
                "preferredMondo": "0008667"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 04 Jan 2022 00:00:00 -0000",
          "Tue, 21 Sep 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from CNS hemangioblastomas",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "193300",
                    "gene": "VHL",
                    "preferredMondo": "0008667",
                    "geneOmim": "608537"
                  }
                ],
                "severity": "2",
                "likelihood": "3A",
                "interventions": [
                  {
                    "label": "Imaging to detect CNS hemangioblastomas and guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "193300",
                            "gene": "VHL",
                            "preferredMondo": "0008667",
                            "geneOmim": "608537"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9AB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity (retinal detachment and vision loss) from retinal hemangioblastomas",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "193300",
                    "gene": "VHL",
                    "preferredMondo": "0008667",
                    "geneOmim": "608537"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Evaluation by specialist and dilated retinal exam to detect lesions and guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "193300",
                            "gene": "VHL",
                            "preferredMondo": "0008667",
                            "geneOmim": "608537"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2D",
                        "overall": "8CD"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality from non-CNS VHL-related tumors",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "193300",
                    "gene": "VHL",
                    "preferredMondo": "0008667",
                    "geneOmim": "608537"
                  }
                ],
                "severity": "2",
                "likelihood": "2A",
                "interventions": [
                  {
                    "label": "Evaluation by specialist and imaging to detect tumors (or precursors) and guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "193300",
                            "gene": "VHL",
                            "preferredMondo": "0008667",
                            "geneOmim": "608537"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "8AB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC067",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC067",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:44:04 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Loeys-Dietz Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC067",
        "release": {
          "number": "1.0.3",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SMAD3",
            "geneOmim": "603109",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 3; LDS3",
                "omim": "613795",
                "preferredMondo": "0018954"
              }
            ]
          },
          {
            "gene": "TGFB2",
            "geneOmim": "190220",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 4; LDS4",
                "omim": "614816",
                "preferredMondo": "0018954"
              }
            ]
          },
          {
            "gene": "TGFB3",
            "geneOmim": "190230",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 5; LDS5",
                "omim": "615582",
                "preferredMondo": "0018954"
              }
            ]
          },
          {
            "gene": "TGFBR1",
            "geneOmim": "190181",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 1; LDS1",
                "omim": "609192",
                "preferredMondo": "0018954"
              }
            ]
          },
          {
            "gene": "TGFBR2",
            "geneOmim": "190182",
            "diseases": [
              {
                "label": "LOEYS-DIETZ SYNDROME 2; LDS2",
                "omim": "610168",
                "preferredMondo": "0018954"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 01 Mar 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Clinically Significant Aortic Aneurysm",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "613795",
                    "gene": "SMAD3",
                    "preferredMondo": "0018954",
                    "geneOmim": "603109"
                  },
                  {
                    "disOmim": "614816",
                    "gene": "TGFB2",
                    "preferredMondo": "0018954",
                    "geneOmim": "190220"
                  },
                  {
                    "disOmim": "615582",
                    "gene": "TGFB3",
                    "preferredMondo": "0018954",
                    "geneOmim": "190230"
                  },
                  {
                    "disOmim": "609192",
                    "gene": "TGFBR1",
                    "preferredMondo": "0018954",
                    "geneOmim": "190181"
                  },
                  {
                    "disOmim": "610168",
                    "gene": "TGFBR2",
                    "preferredMondo": "0018954",
                    "geneOmim": "190182"
                  }
                ],
                "severity": "3",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Aortic surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "613795",
                            "gene": "SMAD3",
                            "preferredMondo": "0018954",
                            "geneOmim": "603109"
                          },
                          {
                            "disOmim": "614816",
                            "gene": "TGFB2",
                            "preferredMondo": "0018954",
                            "geneOmim": "190220"
                          },
                          {
                            "disOmim": "615582",
                            "gene": "TGFB3",
                            "preferredMondo": "0018954",
                            "geneOmim": "190230"
                          },
                          {
                            "disOmim": "609192",
                            "gene": "TGFBR1",
                            "preferredMondo": "0018954",
                            "geneOmim": "190181"
                          },
                          {
                            "disOmim": "610168",
                            "gene": "TGFBR2",
                            "preferredMondo": "0018954",
                            "geneOmim": "190182"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3C",
                        "overall": "12CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Aortic Dilation Progression",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "613795",
                    "gene": "SMAD3",
                    "preferredMondo": "0018954",
                    "geneOmim": "603109"
                  },
                  {
                    "disOmim": "614816",
                    "gene": "TGFB2",
                    "preferredMondo": "0018954",
                    "geneOmim": "190220"
                  },
                  {
                    "disOmim": "615582",
                    "gene": "TGFB3",
                    "preferredMondo": "0018954",
                    "geneOmim": "190230"
                  },
                  {
                    "disOmim": "609192",
                    "gene": "TGFBR1",
                    "preferredMondo": "0018954",
                    "geneOmim": "190181"
                  },
                  {
                    "disOmim": "610168",
                    "gene": "TGFBR2",
                    "preferredMondo": "0018954",
                    "geneOmim": "190182"
                  }
                ],
                "severity": "3",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Pharmacotherapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "613795",
                            "gene": "SMAD3",
                            "preferredMondo": "0018954",
                            "geneOmim": "603109"
                          },
                          {
                            "disOmim": "614816",
                            "gene": "TGFB2",
                            "preferredMondo": "0018954",
                            "geneOmim": "190220"
                          },
                          {
                            "disOmim": "615582",
                            "gene": "TGFB3",
                            "preferredMondo": "0018954",
                            "geneOmim": "190230"
                          },
                          {
                            "disOmim": "609192",
                            "gene": "TGFBR1",
                            "preferredMondo": "0018954",
                            "geneOmim": "190181"
                          },
                          {
                            "disOmim": "610168",
                            "gene": "TGFBR2",
                            "preferredMondo": "0018954",
                            "geneOmim": "190182"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "11CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1042",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1042",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:32:05 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Hereditary thrombocytopenia and hematological cancer predisposition syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1042",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "RUNX1",
            "geneOmim": "151385",
            "diseases": [
              {
                "label": "PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM",
                "omim": "601399",
                "preferredMondo": "0100083"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 02 Sep 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality associated with hematological malignancies",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "601399",
                    "gene": "RUNX1",
                    "preferredMondo": "0100083",
                    "geneOmim": "151385"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral and surveillance to guide appropriate management by hematology team, including potential bone marrow biopsy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "601399",
                            "gene": "RUNX1",
                            "preferredMondo": "0100083",
                            "geneOmim": "151385"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2N",
                        "overall": "9CN"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Bleeding complications with pregnancy, procedures, or trauma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "601399",
                    "gene": "RUNX1",
                    "preferredMondo": "0100083",
                    "geneOmim": "151385"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Referral and surveillance to guide appropriate management by hematology team",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "601399",
                            "gene": "RUNX1",
                            "preferredMondo": "0100083",
                            "geneOmim": "151385"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC132",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC132",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:49:33 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Vascular Ehlers-Danlos Syndrome",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC132",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "COL3A1",
            "geneOmim": "120180",
            "diseases": [
              {
                "label": "EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC",
                "omim": "130050",
                "preferredMondo": "0017314"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 02 Sep 2020 00:00:00 -0000",
          "Wed, 15 Apr 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from arterial or organ rupture",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "130050",
                    "gene": "COL3A1",
                    "preferredMondo": "0017314",
                    "geneOmim": "120180"
                  }
                ],
                "severity": "3",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Referral to specialists to guide appropriate risk management including surveillance for aneurysm",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "130050",
                            "gene": "COL3A1",
                            "preferredMondo": "0017314",
                            "geneOmim": "120180"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "1D",
                        "overall": "9CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC008",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC008",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 21 Jun 2023 21:27:09 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Hereditary fructose intolerance",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC008",
        "release": {
          "number": "2.0.0",
          "date": "Wed, 21 Jun 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ALDOB",
            "geneOmim": "612724",
            "diseases": [
              {
                "label": "FRUCTOSE INTOLERANCE, HEREDITARY; HFI",
                "omim": "229600",
                "preferredMondo": "0009249"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 13 Apr 2023 00:00:00 -0000",
          "Thu, 01 Nov 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity associated with hereditary fructose intolerance including organ failure",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "229600",
                    "gene": "ALDOB",
                    "preferredMondo": "0009249",
                    "geneOmim": "612724"
                  }
                ],
                "severity": "2",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Avoidance of dietary, iatrogenic, or acute exposure to fructose, sucrose, and sorbitol",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "229600",
                            "gene": "ALDOB",
                            "preferredMondo": "0009249",
                            "geneOmim": "612724"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3C",
                        "overall": "10NC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC157",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC157",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 14:02:08 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Aceruloplasminemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC157",
        "release": {
          "number": "1.1.5",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CP",
            "geneOmim": "117700",
            "diseases": [
              {
                "label": "ACERULOPLASMINEMIA",
                "omim": "604290",
                "preferredMondo": "0011426"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 17 Sep 2018 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to iron accumulation",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "604290",
                    "gene": "CP",
                    "preferredMondo": "0011426",
                    "geneOmim": "117700"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Iron chelation and avoidance of iron supplementation",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "604290",
                            "gene": "CP",
                            "preferredMondo": "0011426",
                            "geneOmim": "117700"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "1D",
                        "overall": "8CD"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity due to diabetes mellitus resulting from iron accumulation",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "604290",
                    "gene": "CP",
                    "preferredMondo": "0011426",
                    "geneOmim": "117700"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Screening for diabetes mellitus",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "604290",
                            "gene": "CP",
                            "preferredMondo": "0011426",
                            "geneOmim": "117700"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "10CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC042",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC042",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:35:05 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Catecholaminergic Polymorphic Ventricular Tachycardia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CALM1",
            "geneOmim": "114180",
            "diseases": [
              {
                "label": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4",
                "omim": "614916",
                "preferredMondo": "0013966"
              }
            ]
          },
          {
            "gene": "CALM2",
            "geneOmim": "114182",
            "diseases": [
              {
                "label": "LONG QT SYNDROME 15; LQT15",
                "omim": "616249",
                "preferredMondo": "0017990"
              }
            ]
          },
          {
            "gene": "CALM3",
            "geneOmim": "114183",
            "diseases": [
              {
                "label": "LONG QT SYNDROME 16; LQT16",
                "omim": "618782",
                "preferredMondo": "0032915"
              }
            ]
          },
          {
            "gene": "CASQ2",
            "geneOmim": "114251",
            "diseases": [
              {
                "label": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2",
                "omim": "611938",
                "preferredMondo": "0012762"
              }
            ]
          },
          {
            "gene": "RYR2",
            "geneOmim": "180902",
            "diseases": [
              {
                "label": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1",
                "omim": "604772",
                "preferredMondo": "0011484"
              }
            ]
          },
          {
            "gene": "TECRL",
            "geneOmim": "617242",
            "diseases": [
              {
                "label": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3",
                "omim": "614021",
                "preferredMondo": "0013529"
              }
            ]
          },
          {
            "gene": "TRDN",
            "geneOmim": "603283",
            "diseases": [
              {
                "label": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5",
                "omim": "615441",
                "preferredMondo": "0014191"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 11 Mar 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Sudden cardiac death",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "604772",
                    "gene": "RYR2",
                    "preferredMondo": "0011484",
                    "geneOmim": "180902"
                  },
                  {
                    "disOmim": "611938",
                    "gene": "CASQ2",
                    "preferredMondo": "0012762",
                    "geneOmim": "114251"
                  },
                  {
                    "disOmim": "615441",
                    "gene": "TRDN",
                    "preferredMondo": "0014191",
                    "geneOmim": "603283"
                  },
                  {
                    "disOmim": "614916",
                    "gene": "CALM1",
                    "preferredMondo": "0013966",
                    "geneOmim": "114180"
                  },
                  {
                    "disOmim": "616249",
                    "gene": "CALM2",
                    "preferredMondo": "0017990",
                    "geneOmim": "114182"
                  },
                  {
                    "disOmim": "618782",
                    "gene": "CALM3",
                    "preferredMondo": "0032915",
                    "geneOmim": "114183"
                  },
                  {
                    "disOmim": "614021",
                    "gene": "TECRL",
                    "preferredMondo": "0013529",
                    "geneOmim": "617242"
                  }
                ],
                "severity": "3",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Antiarrhythmic therapy with beta-blockers and consideration for more intensive therapies as indicated",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "604772",
                            "gene": "RYR2",
                            "preferredMondo": "0011484",
                            "geneOmim": "180902"
                          },
                          {
                            "disOmim": "611938",
                            "gene": "CASQ2",
                            "preferredMondo": "0012762",
                            "geneOmim": "114251"
                          },
                          {
                            "disOmim": "615441",
                            "gene": "TRDN",
                            "preferredMondo": "0014191",
                            "geneOmim": "603283"
                          },
                          {
                            "disOmim": "614916",
                            "gene": "CALM1",
                            "preferredMondo": "0013966",
                            "geneOmim": "114180"
                          },
                          {
                            "disOmim": "616249",
                            "gene": "CALM2",
                            "preferredMondo": "0017990",
                            "geneOmim": "114182"
                          },
                          {
                            "disOmim": "618782",
                            "gene": "CALM3",
                            "preferredMondo": "0032915",
                            "geneOmim": "114183"
                          },
                          {
                            "disOmim": "614021",
                            "gene": "TECRL",
                            "preferredMondo": "0013529",
                            "geneOmim": "617242"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3A",
                        "overall": "12CA"
                      }
                    ]
                  },
                  {
                    "label": "Avoidance of intense exercise",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "604772",
                            "gene": "RYR2",
                            "preferredMondo": "0011484",
                            "geneOmim": "180902"
                          },
                          {
                            "disOmim": "611938",
                            "gene": "CASQ2",
                            "preferredMondo": "0012762",
                            "geneOmim": "114251"
                          },
                          {
                            "disOmim": "615441",
                            "gene": "TRDN",
                            "preferredMondo": "0014191",
                            "geneOmim": "603283"
                          },
                          {
                            "disOmim": "614916",
                            "gene": "CALM1",
                            "preferredMondo": "0013966",
                            "geneOmim": "114180"
                          },
                          {
                            "disOmim": "616249",
                            "gene": "CALM2",
                            "preferredMondo": "0017990",
                            "geneOmim": "114182"
                          },
                          {
                            "disOmim": "618782",
                            "gene": "CALM3",
                            "preferredMondo": "0032915",
                            "geneOmim": "114183"
                          },
                          {
                            "disOmim": "614021",
                            "gene": "TECRL",
                            "preferredMondo": "0013529",
                            "geneOmim": "617242"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2N",
                        "overall": "11CN"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1027",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1027",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 30 May 2025 14:30:36 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Early-Onset and Late-Onset Adult Monogenic Parkinson Disease",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1027",
        "release": {
          "number": "1.0.3",
          "date": "Fri, 30 May 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "GBA",
            "geneOmim": "606463",
            "diseases": [
              {
                "label": "PARKINSON DISEASE, LATE-ONSET; PD",
                "omim": "168600",
                "preferredMondo": "0005180"
              }
            ]
          },
          {
            "gene": "LRRK2",
            "geneOmim": "609007",
            "diseases": [
              {
                "label": "PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8",
                "omim": "607060",
                "preferredMondo": "0011764"
              }
            ]
          },
          {
            "gene": "PARK2",
            "geneOmim": "602544",
            "diseases": [
              {
                "label": "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2",
                "omim": "600116",
                "preferredMondo": "0010820"
              }
            ]
          },
          {
            "gene": "PARK7",
            "geneOmim": "602533",
            "diseases": [
              {
                "label": "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7",
                "omim": "606324",
                "preferredMondo": "0011658"
              }
            ]
          },
          {
            "gene": "PINK1",
            "geneOmim": "608309",
            "diseases": [
              {
                "label": "PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6",
                "omim": "605909",
                "preferredMondo": "0011613"
              }
            ]
          },
          {
            "gene": "SNCA",
            "geneOmim": "163890",
            "diseases": [
              {
                "label": "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1",
                "omim": "168601",
                "preferredMondo": "0008200"
              }
            ]
          },
          {
            "gene": "VPS13C",
            "geneOmim": "608879",
            "diseases": [
              {
                "label": "PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23",
                "omim": "616840",
                "preferredMondo": "0014796"
              }
            ]
          },
          {
            "gene": "VPS35",
            "geneOmim": "601501",
            "diseases": [
              {
                "label": "PARKINSON DISEASE 17; PARK17",
                "omim": "614203",
                "preferredMondo": "0013625"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 21 Jun 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC065",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC065",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 03 May 2023 21:10:18 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Homozygous Familial Hypercholesterolemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC065",
        "release": {
          "number": "1.0.3",
          "date": "Wed, 03 May 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "APOB",
            "geneOmim": "107730",
            "diseases": [
              {
                "label": "HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2",
                "omim": "144010",
                "preferredMondo": "0007751"
              }
            ]
          },
          {
            "gene": "LDLR",
            "geneOmim": "606945",
            "diseases": [
              {
                "label": "HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1",
                "omim": "143890",
                "preferredMondo": "0007750"
              }
            ]
          },
          {
            "gene": "PCSK9",
            "geneOmim": "607786",
            "diseases": [
              {
                "label": "HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3",
                "omim": "603776",
                "preferredMondo": "0011369"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 03 Aug 2020 00:00:00 -0000",
          "Thu, 27 Feb 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Clinical cardiovascular events",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "143890",
                    "gene": "LDLR",
                    "preferredMondo": "0007750",
                    "geneOmim": "606945"
                  },
                  {
                    "disOmim": "144010",
                    "gene": "APOB",
                    "preferredMondo": "0007751",
                    "geneOmim": "107730"
                  },
                  {
                    "disOmim": "603776",
                    "gene": "PCSK9",
                    "preferredMondo": "0011369",
                    "geneOmim": "607786"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Lipid lowering medications and diet to FH appropriate LDL-C goal",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "143890",
                            "gene": "LDLR",
                            "preferredMondo": "0007750",
                            "geneOmim": "606945"
                          },
                          {
                            "disOmim": "144010",
                            "gene": "APOB",
                            "preferredMondo": "0007751",
                            "geneOmim": "107730"
                          },
                          {
                            "disOmim": "603776",
                            "gene": "PCSK9",
                            "preferredMondo": "0011369",
                            "geneOmim": "607786"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2A",
                        "overall": "9CA"
                      }
                    ]
                  },
                  {
                    "label": "Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "143890",
                            "gene": "LDLR",
                            "preferredMondo": "0007750",
                            "geneOmim": "606945"
                          },
                          {
                            "disOmim": "144010",
                            "gene": "APOB",
                            "preferredMondo": "0007751",
                            "geneOmim": "107730"
                          },
                          {
                            "disOmim": "603776",
                            "gene": "PCSK9",
                            "preferredMondo": "0011369",
                            "geneOmim": "607786"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3A",
                        "overall": "10CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1023",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1023",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:21:29 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Noonan Syndrome with Multiple Lentigines",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023",
        "release": {
          "number": "1.0.1",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "PTPN11",
            "geneOmim": "176876",
            "diseases": [
              {
                "label": "PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11",
                "omim": "176876",
                "preferredMondo": "0007893"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 02 Mar 2021 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Cardiac manifestations",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "176876",
                    "gene": "PTPN11",
                    "preferredMondo": "0007893",
                    "geneOmim": "176876"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Cardiac surveillance including cardiac imaging and electrocardiogram",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "176876",
                            "gene": "PTPN11",
                            "preferredMondo": "0007893",
                            "geneOmim": "176876"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "0D",
                        "overall": "8CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC021",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC021",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:27:46 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Neurofibromatosis Type II",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC021",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "NF2",
            "geneOmim": "607379",
            "diseases": [
              {
                "label": "NEUROFIBROMATOSIS, TYPE II; NF2",
                "omim": "101000",
                "preferredMondo": "0007039"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 31 Mar 2021 00:00:00 -0000",
          "Mon, 30 Nov 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from NF2-related tumors",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "101000",
                    "gene": "NF2",
                    "preferredMondo": "0007039",
                    "geneOmim": "607379"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Management in specialty centers with multidisciplinary teams for comprehensive care (includes hearing preservation and augmentation, appropriate surveillance, and downstream management)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "101000",
                            "gene": "NF2",
                            "preferredMondo": "0007039",
                            "geneOmim": "607379"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC122",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC122",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 13:43:57 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Methylmalonic Acidemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC122",
        "release": {
          "number": "1.0.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "MCEE",
            "geneOmim": "608419",
            "diseases": [
              {
                "label": "METHYLMALONYL-CoA EPIMERASE DEFICIENCY",
                "omim": "251120",
                "preferredMondo": "0009615"
              }
            ]
          },
          {
            "gene": "MMAA",
            "geneOmim": "607481",
            "diseases": [
              {
                "label": "METHYLMALONIC ACIDURIA, cblA TYPE",
                "omim": "251100",
                "preferredMondo": "0009613"
              }
            ]
          },
          {
            "gene": "MMAB",
            "geneOmim": "607568",
            "diseases": [
              {
                "label": "METHYLMALONIC ACIDURIA, cblB TYPE",
                "omim": "251110",
                "preferredMondo": "0009614"
              }
            ]
          },
          {
            "gene": "MMADHC",
            "geneOmim": "611935",
            "diseases": [
              {
                "label": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD",
                "omim": "277410",
                "preferredMondo": "0010185"
              }
            ]
          },
          {
            "gene": "MUT",
            "geneOmim": "609058",
            "diseases": [
              {
                "label": "METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY",
                "omim": "251000",
                "preferredMondo": "0009612"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 26 Jun 2019 00:00:00 -0000",
          "Mon, 09 Apr 2018 00:00:00 -0000",
          "Wed, 27 Dec 2017 00:00:00 -0000",
          "Tue, 18 Aug 2015 00:00:00 -0000",
          "Mon, 20 Apr 2015 00:00:00 -0000",
          "Tue, 13 May 2014 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity (B12 responsive and unresponsive form)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "251000",
                    "gene": "MUT",
                    "preferredMondo": "0009612",
                    "geneOmim": "609058"
                  },
                  {
                    "disOmim": "251100",
                    "gene": "MMAA",
                    "preferredMondo": "0009613",
                    "geneOmim": "607481"
                  },
                  {
                    "disOmim": "251110",
                    "gene": "MMAB",
                    "preferredMondo": "0009614",
                    "geneOmim": "607568"
                  },
                  {
                    "disOmim": "277410",
                    "gene": "MMADHC",
                    "preferredMondo": "0010185",
                    "geneOmim": "611935"
                  },
                  {
                    "disOmim": "251120",
                    "gene": "MCEE",
                    "preferredMondo": "0009615",
                    "geneOmim": "608419"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Metabolic management (includes dietary modification, l-carnitine, antibiotics)",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "251000",
                            "gene": "MUT",
                            "preferredMondo": "0009612",
                            "geneOmim": "609058"
                          },
                          {
                            "disOmim": "251100",
                            "gene": "MMAA",
                            "preferredMondo": "0009613",
                            "geneOmim": "607481"
                          },
                          {
                            "disOmim": "251110",
                            "gene": "MMAB",
                            "preferredMondo": "0009614",
                            "geneOmim": "607568"
                          },
                          {
                            "disOmim": "277410",
                            "gene": "MMADHC",
                            "preferredMondo": "0010185",
                            "geneOmim": "611935"
                          },
                          {
                            "disOmim": "251120",
                            "gene": "MCEE",
                            "preferredMondo": "0009615",
                            "geneOmim": "608419"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity (B12 responsive only)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "251000",
                    "gene": "MUT",
                    "preferredMondo": "0009612",
                    "geneOmim": "609058"
                  },
                  {
                    "disOmim": "251100",
                    "gene": "MMAA",
                    "preferredMondo": "0009613",
                    "geneOmim": "607481"
                  },
                  {
                    "disOmim": "251110",
                    "gene": "MMAB",
                    "preferredMondo": "0009614",
                    "geneOmim": "607568"
                  },
                  {
                    "disOmim": "277410",
                    "gene": "MMADHC",
                    "preferredMondo": "0010185",
                    "geneOmim": "611935"
                  },
                  {
                    "disOmim": "251120",
                    "gene": "MCEE",
                    "preferredMondo": "0009615",
                    "geneOmim": "608419"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Injectable vitamin B12",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "251000",
                            "gene": "MUT",
                            "preferredMondo": "0009612",
                            "geneOmim": "609058"
                          },
                          {
                            "disOmim": "251100",
                            "gene": "MMAA",
                            "preferredMondo": "0009613",
                            "geneOmim": "607481"
                          },
                          {
                            "disOmim": "251110",
                            "gene": "MMAB",
                            "preferredMondo": "0009614",
                            "geneOmim": "607568"
                          },
                          {
                            "disOmim": "277410",
                            "gene": "MMADHC",
                            "preferredMondo": "0010185",
                            "geneOmim": "611935"
                          },
                          {
                            "disOmim": "251120",
                            "gene": "MCEE",
                            "preferredMondo": "0009615",
                            "geneOmim": "608419"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC104",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC104",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 22 Dec 2023 01:03:05 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Gaucher Disease",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC104",
        "release": {
          "number": "1.0.2",
          "date": "Thu, 21 Dec 2023 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "GBA",
            "geneOmim": "606463",
            "diseases": [
              {
                "label": "GAUCHER DISEASE, TYPE I; GD1",
                "omim": "230800",
                "preferredMondo": "0018150"
              },
              {
                "label": "GAUCHER DISEASE, TYPE II; GD2",
                "omim": "230900",
                "preferredMondo": "0018150"
              },
              {
                "label": "GAUCHER DISEASE, TYPE III; GD3",
                "omim": "231000",
                "preferredMondo": "0018150"
              },
              {
                "label": "GAUCHER DISEASE, TYPE IIIC; GD3C",
                "omim": "231005",
                "preferredMondo": "0018150"
              },
              {
                "label": "GAUCHER DISEASE, PERINATAL LETHAL",
                "omim": "608013",
                "preferredMondo": "0018150"
              }
            ]
          }
        ],
        "searchDates": [
          "Thu, 08 Dec 2022 00:00:00 -0000",
          "Mon, 22 Aug 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "230900",
                    "gene": "GBA",
                    "preferredMondo": "0018150",
                    "geneOmim": "606463"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to specialists for surveillance and initiation of enzyme replacement therapy, when indicated",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "230900",
                            "gene": "GBA",
                            "preferredMondo": "0018150",
                            "geneOmim": "606463"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3A",
                        "overall": "10CA"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1017",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1017",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Sun, 24 Mar 2024 15:01:39 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Citrullinemia",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1017",
        "release": {
          "number": "1.0.4",
          "date": "Sun, 24 Mar 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ASS1",
            "geneOmim": "603470",
            "diseases": [
              {
                "label": "CITRULLINEMIA, CLASSIC",
                "omim": "215700",
                "preferredMondo": "0008988"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 26 Oct 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to hyperammonemic crises",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "215700",
                    "gene": "ASS1",
                    "preferredMondo": "0008988",
                    "geneOmim": "603470"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to specialist to guide dietary management, arginine, and nitrogen scavengers and emergency management to mitigate hyperammonemic crises",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "215700",
                            "gene": "ASS1",
                            "preferredMondo": "0008988",
                            "geneOmim": "603470"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "3B",
                        "overall": "10CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC070",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC070",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:47:32 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "MUTYH-Associated Polyposis",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC070",
        "release": {
          "number": "1.0.2",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "MUTYH",
            "geneOmim": "604933",
            "diseases": [
              {
                "label": "FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2",
                "omim": "608456",
                "preferredMondo": "0012041"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 10 Feb 2020 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC106",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC106",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 04 Jun 2025 21:28:24 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Factor V Leiden, Heterozygous",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC106",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 04 Jun 2025 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "F5",
            "geneOmim": "612309",
            "diseases": [
              {
                "label": "THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2",
                "omim": "188055",
                "preferredMondo": "0008560"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 04 Jun 2025 21:17:50 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Failed",
          "stg2": "Incomplete",
          "scoring": "Incomplete",
          "assertion": "Incomplete"
        }
      }
    }
  },
  {
    "docId": "AC1037",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1037",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 05 Jun 2024 20:58:25 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Cerebral creatine deficiency syndromes",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1037",
        "release": {
          "number": "1.0.0",
          "date": "Wed, 05 Jun 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "GAMT",
            "geneOmim": "601240",
            "diseases": [
              {
                "label": "CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2",
                "omim": "612736",
                "preferredMondo": "0000456"
              }
            ]
          },
          {
            "gene": "GATM",
            "geneOmim": "602360",
            "diseases": [
              {
                "label": "CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3",
                "omim": "612718",
                "preferredMondo": "0000456"
              }
            ]
          },
          {
            "gene": "SLC6A8",
            "geneOmim": "300036",
            "diseases": [
              {
                "label": "CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1",
                "omim": "300352",
                "preferredMondo": "0000456"
              }
            ]
          }
        ],
        "searchDates": [
          "Tue, 28 Nov 2023 00:00:00 -0000",
          "Mon, 19 Sep 2022 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity due to creatine biosynthesis deficiency (GAMT deficiency)",
            "scoringGroups": [
              {
                "label": "GroupD",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "612736",
                    "gene": "GAMT",
                    "preferredMondo": "0000456",
                    "geneOmim": "601240"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to specialist to guide creatine supplementation and dietary management",
                    "scoringGroups": [
                      {
                        "label": "GroupD",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "612736",
                            "gene": "GAMT",
                            "preferredMondo": "0000456",
                            "geneOmim": "601240"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "9CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity due to creatine biosynthesis deficiency (AGAT deficiency)",
            "scoringGroups": [
              {
                "label": "GroupE",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "612718",
                    "gene": "GATM",
                    "preferredMondo": "0000456",
                    "geneOmim": "602360"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Referral to specialist to guide creatine supplementation",
                    "scoringGroups": [
                      {
                        "label": "GroupE",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "612718",
                            "gene": "GATM",
                            "preferredMondo": "0000456",
                            "geneOmim": "602360"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2C",
                        "overall": "8CC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity due to creatine transporter deficiency (males only)  (CRTR deficiency)",
            "scoringGroups": [
              {
                "label": "GroupC",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "300352",
                    "gene": "SLC6A8",
                    "preferredMondo": "0000456",
                    "geneOmim": "300036"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Referral to specialist to guide creatine, arginine, and glycine supplementation",
                    "scoringGroups": [
                      {
                        "label": "GroupC",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "300352",
                            "gene": "SLC6A8",
                            "preferredMondo": "0000456",
                            "geneOmim": "300036"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "1C",
                        "overall": "8CC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC117",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC117",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Mon, 15 Apr 2024 20:41:31 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Adrenoleukodystrophy",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC117",
        "release": {
          "number": "1.0.0",
          "date": "Mon, 15 Apr 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "ABCD1",
            "geneOmim": "300371",
            "diseases": [
              {
                "label": "ADRENOLEUKODYSTROPHY; ALD",
                "omim": "300100",
                "preferredMondo": "0018544"
              }
            ]
          }
        ],
        "searchDates": [
          "Fri, 01 Dec 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality due to cerebral adrenoleukodystrophy (males only)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "300100",
                    "gene": "ABCD1",
                    "preferredMondo": "0018544",
                    "geneOmim": "300371"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation and surveillance by specialist to guide initiation of hematopoietic cell transplantation or gene therapy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "300100",
                            "gene": "ABCD1",
                            "preferredMondo": "0018544",
                            "geneOmim": "300371"
                          }
                        ],
                        "natureOfIntervention": "2",
                        "effectiveness": "2B",
                        "overall": "9CB"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity and mortality due to adrenal insufficiency (males only)",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "300100",
                    "gene": "ABCD1",
                    "preferredMondo": "0018544",
                    "geneOmim": "300371"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialist to guide hormone replacement",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "300100",
                            "gene": "ABCD1",
                            "preferredMondo": "0018544",
                            "geneOmim": "300371"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3B",
                        "overall": "11CB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC093",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC093",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Fri, 20 Dec 2024 19:52:26 -0000",
      "lastAuthor": "Cope Heidi"
    },
    "disease": "Alpha-1 Antitrypsin Deficiency",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC093",
        "release": {
          "number": "1.0.0",
          "date": "Fri, 20 Dec 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "SERPINA1",
            "geneOmim": "107400",
            "diseases": [
              {
                "label": "ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD",
                "omim": "613490",
                "preferredMondo": "0013282"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 26 Aug 2024 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity and mortality from liver disease",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "613490",
                    "gene": "SERPINA1",
                    "preferredMondo": "0013282",
                    "geneOmim": "107400"
                  }
                ],
                "severity": "2",
                "likelihood": "2A",
                "interventions": [
                  {
                    "label": "Surveillance by specialist to guide management including consideration of liver transplant",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "613490",
                            "gene": "SERPINA1",
                            "preferredMondo": "0013282",
                            "geneOmim": "107400"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2B",
                        "overall": "9AB"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC1061",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC1061",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Tue, 13 Feb 2024 19:50:58 -0000",
      "lastAuthor": "Pak Christine"
    },
    "disease": "Multiple endocrine neoplasia type 4",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1061",
        "release": {
          "number": "1.0.0",
          "date": "Tue, 13 Feb 2024 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "CDKN1B",
            "geneOmim": "600778",
            "diseases": [
              {
                "label": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4",
                "omim": "610755",
                "preferredMondo": "0012552"
              }
            ]
          }
        ],
        "searchDates": [
          "Mon, 11 Sep 2023 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Morbidity from parathyroid adenoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "610755",
                    "gene": "CDKN1B",
                    "preferredMondo": "0012552",
                    "geneOmim": "600778"
                  }
                ],
                "severity": "1",
                "likelihood": "0D",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialists, including biochemical surveillance to guide imaging and parathyroidectomy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "610755",
                            "gene": "CDKN1B",
                            "preferredMondo": "0012552",
                            "geneOmim": "600778"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "6DC"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Morbidity from pituitary adenoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "610755",
                    "gene": "CDKN1B",
                    "preferredMondo": "0012552",
                    "geneOmim": "600778"
                  }
                ],
                "severity": "1",
                "likelihood": "3N",
                "interventions": [
                  {
                    "label": "Evaluation and management by specialists, including biochemical and endocrine surveillance and growth monitoring to guide treatment",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "610755",
                            "gene": "CDKN1B",
                            "preferredMondo": "0012552",
                            "geneOmim": "600778"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "2C",
                        "overall": "9NC"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  },
  {
    "docId": "AC080",
    "iri": "https://actionability.clinicalgenome.org/ac/api/doc/AC080",
    "curationType": "Gene-Condition",
    "metadata": {
      "lastUpdated": "Wed, 09 Feb 2022 12:51:15 -0000",
      "lastAuthor": "Administrator Account Genboree"
    },
    "disease": "Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer",
    "context": {
      "Pediatric": {
        "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC080",
        "release": {
          "number": "1.0.4",
          "date": "Wed, 09 Feb 2022 00:00:00 -0000"
        },
        "genes": [
          {
            "gene": "RET",
            "geneOmim": "164761",
            "diseases": [
              {
                "label": "THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC",
                "omim": "155240",
                "preferredMondo": "0007958"
              },
              {
                "label": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A",
                "omim": "171400",
                "preferredMondo": "0008234"
              }
            ]
          }
        ],
        "searchDates": [
          "Wed, 06 Mar 2019 00:00:00 -0000",
          "Thu, 04 Jun 2015 00:00:00 -0000",
          "Tue, 15 Jan 2019 00:00:00 -0000"
        ],
        "status": {
          "overall": "Released",
          "stg1": "Complete",
          "stg2": "Complete",
          "scoring": "Complete",
          "assertion": "Incomplete"
        },
        "outcomes": [
          {
            "label": "Medullary thyroid cancer",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "155240",
                    "gene": "RET",
                    "preferredMondo": "0007958",
                    "geneOmim": "164761"
                  },
                  {
                    "disOmim": "171400",
                    "gene": "RET",
                    "preferredMondo": "0008234",
                    "geneOmim": "164761"
                  }
                ],
                "severity": "2",
                "likelihood": "3C",
                "interventions": [
                  {
                    "label": "Prophylactic Thyroidectomy",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "155240",
                            "gene": "RET",
                            "preferredMondo": "0007958",
                            "geneOmim": "164761"
                          },
                          {
                            "disOmim": "171400",
                            "gene": "RET",
                            "preferredMondo": "0008234",
                            "geneOmim": "164761"
                          }
                        ],
                        "natureOfIntervention": "1",
                        "effectiveness": "3A",
                        "overall": "9CA"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Pheochromocytoma",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "155240",
                    "gene": "RET",
                    "preferredMondo": "0007958",
                    "geneOmim": "164761"
                  },
                  {
                    "disOmim": "171400",
                    "gene": "RET",
                    "preferredMondo": "0008234",
                    "geneOmim": "164761"
                  }
                ],
                "severity": "2",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Biochemical surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "155240",
                            "gene": "RET",
                            "preferredMondo": "0007958",
                            "geneOmim": "164761"
                          },
                          {
                            "disOmim": "171400",
                            "gene": "RET",
                            "preferredMondo": "0008234",
                            "geneOmim": "164761"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3D",
                        "overall": "10CD"
                      }
                    ]
                  }
                ]
              }
            ]
          },
          {
            "label": "Hyperparathyroidism",
            "scoringGroups": [
              {
                "label": "GroupA",
                "geneDiseaseMembers": [
                  {
                    "disOmim": "155240",
                    "gene": "RET",
                    "preferredMondo": "0007958",
                    "geneOmim": "164761"
                  },
                  {
                    "disOmim": "171400",
                    "gene": "RET",
                    "preferredMondo": "0008234",
                    "geneOmim": "164761"
                  }
                ],
                "severity": "1",
                "likelihood": "2C",
                "interventions": [
                  {
                    "label": "Biochemical surveillance",
                    "scoringGroups": [
                      {
                        "label": "GroupA",
                        "geneDiseaseMembers": [
                          {
                            "disOmim": "155240",
                            "gene": "RET",
                            "preferredMondo": "0007958",
                            "geneOmim": "164761"
                          },
                          {
                            "disOmim": "171400",
                            "gene": "RET",
                            "preferredMondo": "0008234",
                            "geneOmim": "164761"
                          }
                        ],
                        "natureOfIntervention": "3",
                        "effectiveness": "3D",
                        "overall": "9CD"
                      }
                    ]
                  }
                ]
              }
            ]
          }
        ]
      }
    }
  }
]