{ "columns": [ "docId", "topicIri", "curationType", "latestSearchDate", "lastUpdated", "lastAuthor", "context", "contextIri", "release", "releaseDate", "geneOrVariant", "geneOmim", "disease", "omim", "status-overall", "status-stg1", "status-stg2", "status-scoring", "outcome", "outcomeScoringGroup", "intervention", "interventionScoringGroup", "severity", "likelihood", "natureOfIntervention", "effectiveness", "overall" ], "rows": [ [ "AC022", "/AC022", "Gene-Condition", "Tue, 10 Mar 2015 00:00:00 -0000", "Thu, 04 Apr 2019 16:27:31 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC022", "2.0.0", "Thu, 04 Apr 2019 00:00:00 -0000", "SDHD", "602690", "Hereditary Paragangliomas-Pheochromocytoma Syndrome (Paragangliomas I)", "(No paired disease(s) for gene)", "Retracted", "Complete", "Complete", "Complete", "Paraganglioma development", "N/A", "Surveillance", "N/A", "2", "3C", "3", "2C", "10CC" ], [ "AC023", "/AC023", 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"Wed, 09 Feb 2022 12:50:03 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC077", "2.2.4", "Wed, 09 Feb 2022 00:00:00 -0000", "MEN1", "613733", "Multiple Endocrine Neoplasia Type I", "131100", "Released", "Complete", "Complete", "Complete", "Morbidity from other MEN1-related tumors", "GroupA", "Imaging surveillance", "GroupA", "2", "3C", "3", "3B", "11CB" ], [ "AC040", "/AC040", "Gene-Condition", "Thu, 10 Oct 2019 00:00:00 -0000", "Wed, 09 Feb 2022 12:32:31 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC040", "2.0.3", "Wed, 09 Feb 2022 00:00:00 -0000", "SCN5A", "600163", "Brugada Syndrome", "601144", "Released", "Complete", "Complete", "Complete", "Sudden cardiac death", "GroupA", "Avoidance of drugs with sodium channel blocking properties and high fever", "GroupA", "3", "2C", "3", "2B", "10CB" ], [ "AC081", "/AC081", "Gene-Condition", "Wed, 06 Mar 2019 00:00:00 -0000", "Wed, 09 Feb 2022 12:51:51 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC081", "2.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "RET", "164761", "Multiple Endocrine Neoplasia Type IIB", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC001", "/AC001", "Gene-Condition", "Mon, 30 Apr 2018 00:00:00 -0000", "Wed, 09 Feb 2022 12:18:48 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC001", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "RB1", "614041", "Retinoblastoma", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC1001", "/AC1001", "Gene-Condition", "Mon, 17 Dec 2018 00:00:00 -0000", "Wed, 09 Feb 2022 13:00:45 -0000", "Administrator Account 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"Wed, 09 Feb 2022 13:01:56 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1002", "1.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "ALDH7A1", "107323", "Pyridoxine-dependent epilepsy", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC1022", "/AC1022", "Gene-Condition", "Sat, 26 Dec 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:20:19 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1022", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "CPT2", "600650", "Carnitine palmitoyltransferase II deficiency", "255110,600649,608836", "Released", "Complete", "Complete", "Complete", "Morbidity associated with metabolic decompensation", "GroupA", "Metabolic management (dietary management and illness protocols)", "GroupA", "1", "3C", "3", "0D", "7CD" ], [ "AC1022", "/AC1022", "Gene-Condition", "Sat, 26 Dec 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:20:19 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1022", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "CPT2", "600650", "Carnitine palmitoyltransferase II deficiency", "255110,600649,608836", "Released", "Complete", "Complete", "Complete", "Morbidity associated with metabolic decompensation", "GroupA", "Triheptanoin treatment", "GroupA", "1", "3C", "2", "2N", "8CN" ], [ "AC1004", "/AC1004", "Gene-Condition", "Tue, 06 Aug 2019 00:00:00 -0000", "Wed, 09 Feb 2022 13:03:40 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1004", "1.0.4", "Wed, 09 Feb 2022 00:00:00 -0000", "PRKAR1A", "188830", "Carney Complex", "160980", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from cardiac myxomas", "GroupA", "Cardiac imaging to detect and guide excision of tumors", "GroupA", "3", "3C", "3", "3N", "12CN" ], [ "AC1011", "/AC1011", "Gene-Condition", "Tue, 03 Dec 2019 00:00:00 -0000", "Wed, 09 Feb 2022 13:10:13 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1011", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "DHCR7", "602858", "Smith-Lemli-Optiz Syndrome", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC095", "/AC095", "Gene-Condition", "Thu, 07 Sep 2023 00:00:00 -0000", "Wed, 03 Jan 2024 23:53:11 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC095", "2.0.0", "Wed, 03 Jan 2024 00:00:00 -0000", "HMBS", "609806", "Acute Intermittent Porphyria", "176000", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from acute neurovisceral attacks", "GroupA", "Evaluation and management by specialists, including hemin administration, avoidance of triggers, and patient education", "GroupA", "2", "2D", "3", "3B", "10DB" ], [ "AC095", "/AC095", "Gene-Condition", "Thu, 07 Sep 2023 00:00:00 -0000", "Wed, 03 Jan 2024 23:53:11 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC095", "2.0.0", "Wed, 03 Jan 2024 00:00:00 -0000", "HMBS", "609806", "Acute Intermittent Porphyria", "176000", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from hepatocellular carcinoma (HCC)", "GroupA", "Evaluation and surveillance by specialists for early detection of HCC", "GroupA", "2", "1A", "3", "2B", "8AB" ], [ "AC1012", "/AC1012", "Gene-Condition", "Tue, 09 Jul 2019 00:00:00 -0000", "Wed, 09 Feb 2022 13:11:19 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1012", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "SPRED1", "609291", "Legius syndrome", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC130", "/AC130", "Gene-Condition", "NA", "Thu, 04 Apr 2019 16:35:07 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC130", "2.0.0", "Thu, 04 Apr 2019 00:00:00 -0000", "SDHB", "185470", "Hereditary Paragangliomas- Pheochromocytoma Syndrome (Paragangliomas 4)", "(No paired disease(s) for gene)", "Retracted", "Incomplete", "Incomplete", "Incomplete", "Paraganglioma development", "N/A", "Surveillance", "N/A", "2", "3C", "3", "2C", "10CC" ], [ "AC1024", "/AC1024", "Gene-Condition", "Tue, 09 Mar 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:22:03 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1024", "1.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "SMARCA4,SMARCB1", "603254,601607", "Rhabdoid tumor predisposition syndrome", "613325,609322", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from RTPS-related tumors", "GroupA", "Imaging surveillance to guide detection and initiate multimodal treatment (including a combination of surgery, chemotherapy, and/or radiation therapy)", "GroupA", "2", "0D", "2", "0D", "4DD" ], [ "AC1013", "/AC1013", "Gene-Condition", "Tue, 20 Jun 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:12:06 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1013", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "IVD", "607036", "Isovaleric acidemia", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC1020", "/AC1020", "Gene-Condition", "Mon, 12 Oct 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:19:08 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1020", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "PIK3R1", "171833", "SHORT syndrome", "269880", "Released", "Complete", "Complete", "Complete", "Morbidity due to underlying lipodystrophy-related disorders of glucose and lipid metabolism", "GroupA", "Optimal metabolic control (including management of hyperglycemia, hyperlipidemia, and lipodystrophy)", "GroupA", "1", "3C", "3", "2C", "9CC" ], [ "AC1025", "/AC1025", "Gene-Condition", "Mon, 07 Jun 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:23:16 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1025", "1.0.4", "Wed, 09 Feb 2022 00:00:00 -0000", "FOLR1", "136430", "Neurodegeneration due to cerebral folate transport deficiency", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC1041", "/AC1041", "Gene-Condition", "Mon, 28 Jun 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:30:21 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1041", "1.0.3", "Wed, 09 Feb 2022 00:00:00 -0000", "BCKDHA,BCKDHB,DBT", "608348,248611,248610", "Maple Syrup Urine Disease", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC115", "/AC115", "Gene-Condition", "Thu, 02 Jan 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:39:07 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC115", "2.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "STK11", "602216", "Peutz-Jeghers Syndrome", "175200", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from GI cancer", "GroupA", "Surveillance to detect GI cancer and guide initiation of GI cancer treatment", "GroupA", "2", "3A", "2", "2B", "9AB" ], [ "AC115", "/AC115", "Gene-Condition", "Thu, 02 Jan 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:39:07 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC115", "2.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "STK11", "602216", "Peutz-Jeghers Syndrome", "175200", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from breast cancer", "GroupA", "Imaging surveillance to detect breast cancer and guide initiation of breast cancer treatment", "GroupA", "2", "3C", "3", "2B", "10CB" ], [ "AC139", "/AC139", "Gene-Condition", "Thu, 06 Jul 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:54:16 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "BAP1", "603089", "Tumor Predisposition Syndrome", "614327", "Released", "Complete", "Complete", "Complete", "Malignant Mesothelioma", "GroupA", "Imaging", "GroupA", "2", "2C", "2", "0C", "6CC" ], [ "AC139", "/AC139", "Gene-Condition", "Thu, 06 Jul 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:54:16 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "BAP1", "603089", "Tumor Predisposition Syndrome", "614327", "Released", "Complete", "Complete", "Complete", "Melanoma", "GroupA", "Annual full-body dermatology exam", "GroupA", "2", "2C", "3", "2N", "9CN" ], [ "AC139", "/AC139", "Gene-Condition", "Thu, 06 Jul 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:54:16 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "BAP1", "603089", "Tumor Predisposition Syndrome", "614327", "Released", "Complete", "Complete", "Complete", "Uveal Melanoma", "GroupA", "Annual eye exam, including dilated eye exam, by ocular oncologist", "GroupA", "2", "2C", "3", "0C", "7CC" ], [ "AC139", "/AC139", "Gene-Condition", "Thu, 06 Jul 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:54:16 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "BAP1", "603089", "Tumor Predisposition Syndrome", "614327", "Released", "Complete", "Complete", "Complete", "Clear Cell Renal Cell Carcinoma", "GroupA", "Abdominal Ultrasound", "GroupA", "2", "2C", "3", "3D", "10CD" ], [ "AC148", "/AC148", "Gene-Condition", "Wed, 20 Dec 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:56:07 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC148", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "DNM2", "602378", "DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy", "606482", "Released", "Complete", "Complete", "Complete", "Demyelinating peripheral neuropathy", "GroupA", "Regular medical evaluations", "GroupA", "1", "3C", "Not Scored", "IN", "IN" ], [ "AC148", "/AC148", "Gene-Condition", "Wed, 20 Dec 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:56:07 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC148", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "DNM2", "602378", "DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy", "606482", "Released", "Complete", "Complete", "Complete", "Demyelinating peripheral neuropathy", "GroupA", "Avoidance of vincristine, paclitaxel, succinylcholine", "GroupA", "1", "3C", "2", "3C", "9CC" ], [ "AC089", "/AC089", "Gene-Condition", "Mon, 17 Feb 2025 00:00:00 -0000", "Wed, 18 Jun 2025 22:29:47 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC089", "2.0.0", "Wed, 18 Jun 2025 00:00:00 -0000", "COL5A1,COL5A2", "120215,120190", "Ehlers-Danlos syndrome, classic type", "130000,130010", "Released", "Complete", "Complete", "Complete", "Ehlers-Danlos syndrome, classic type-related morbidity", "GroupA", "Referral to specialists for symptom management and anticipatory guidance", "GroupA", "2", "3N", "3", "1D", "9ND" ], [ "AC1039", "/AC1039", "Gene-Condition", "Wed, 19 May 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:28:15 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1039", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "HADHA,HADHB", "600890,143450", "Disorders of the trifunctional protein complex", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC150", "/AC150", "Gene-Condition", "Tue, 10 Mar 2015 00:00:00 -0000", "Wed, 09 Feb 2022 13:57:32 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC150", "1.1.4", "Wed, 09 Feb 2022 00:00:00 -0000", "MAX,SDHA,SDHAF2,SDHB,SDHC,SDHD,TMEM127", "154950,600857,613019,185470,602413,602690,613403", "Paragangliomas 1, 2, 3, 4, 5; Pheochromocytoma", "171300,614165,601650,115310,605373,168000,171300", "Released", "Complete", "Complete", "Complete", "Paraganglioma development", "GroupA", "Surveillance", "GroupA", "2", "3C", "3", "3B", "11CB" ], [ "AC151", "/AC151", "Gene-Condition", "Wed, 09 May 2018 00:00:00 -0000", "Wed, 09 Feb 2022 13:58:06 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC151", "1.2.4", "Wed, 09 Feb 2022 00:00:00 -0000", "CYP21A2", "613815", "Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency", "201910", "Released", "Complete", "Complete", "Complete", "Infertility/subfertility in females", "GroupA", "Glucocorticoid therapy", "GroupA", "1", "3C", "2", "1B", "7CB" ], [ "AC143", "/AC143", "Gene-Condition", "Thu, 13 Jul 2017 00:00:00 -0000", "Mon, 16 May 2022 20:06:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143", "(ERR: Missing)", "Mon, 16 May 2022 00:00:00 -0000", "LMNA,EMD,FHL1", "150330,300384,300163", "Emery-Dreifuss Muscular Dystrophy (AD, XL)", "181350,310300,300696", "Released", "Complete", "Complete", "Complete", "Complications from pregnancy", "GroupA", "Pregnancy management", "GroupA", "2", "0D", "3", "2C", "7DC" ], [ "AC143", "/AC143", "Gene-Condition", "Thu, 13 Jul 2017 00:00:00 -0000", "Mon, 16 May 2022 20:06:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143", "(ERR: Missing)", "Mon, 16 May 2022 00:00:00 -0000", "LMNA,EMD,FHL1", "150330,300384,300163", "Emery-Dreifuss Muscular Dystrophy (AD, XL)", "181350,310300,300696", "Released", "Complete", "Complete", "Complete", "Scoliosis", "GroupA", "Glucocorticoids", "GroupA", "1", "0D", "2", "2A", "5DA" ], [ "AC143", "/AC143", "Gene-Condition", "Thu, 13 Jul 2017 00:00:00 -0000", "Mon, 16 May 2022 20:06:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143", "(ERR: Missing)", "Mon, 16 May 2022 00:00:00 -0000", "LMNA,EMD,FHL1", "150330,300384,300163", "Emery-Dreifuss Muscular Dystrophy (AD, XL)", "181350,310300,300696", "Released", "Complete", "Complete", "Complete", "Cerebral thromboembolism", "GroupA", "Antithrombotic medications", "GroupA", "2", "0D", "2", "2C", "6DC" ], [ "AC143", "/AC143", "Gene-Condition", "Thu, 13 Jul 2017 00:00:00 -0000", "Mon, 16 May 2022 20:06:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143", "(ERR: Missing)", "Mon, 16 May 2022 00:00:00 -0000", "LMNA,EMD,FHL1", "150330,300384,300163", "Emery-Dreifuss Muscular Dystrophy (AD, XL)", "181350,310300,300696", "Released", "Complete", "Complete", "Complete", "Arrhythmias", "GroupA", "Defibrillator/cardiac surveillance", "GroupA", "3", "0D", "2", "2C", "7DC" ], [ "AC143", "/AC143", "Gene-Condition", "Thu, 13 Jul 2017 00:00:00 -0000", "Mon, 16 May 2022 20:06:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143", "(ERR: Missing)", "Mon, 16 May 2022 00:00:00 -0000", "LMNA,EMD,FHL1", "150330,300384,300163", "Emery-Dreifuss Muscular Dystrophy (AD, XL)", "181350,310300,300696", "Released", "Complete", "Complete", "Complete", "Congestive heart failure", "GroupA", "Pharmacotherapy/cardiac surveillance", "GroupA", "2", "0D", "3", "2C", "7DC" ], [ "AC143", "/AC143", "Gene-Condition", "Thu, 13 Jul 2017 00:00:00 -0000", "Mon, 16 May 2022 20:06:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143", "(ERR: Missing)", "Mon, 16 May 2022 00:00:00 -0000", "LMNA,EMD,FHL1", "150330,300384,300163", "Emery-Dreifuss Muscular Dystrophy (AD, XL)", "181350,310300,300696", "Released", "Complete", "Complete", "Complete", "Complications from anesthesia/surgery", "GroupA", "Anesthesia management", "GroupA", "2", "0D", "3", "2C", "7DC" ], [ "AC143", "/AC143", "Gene-Condition", "Thu, 13 Jul 2017 00:00:00 -0000", "Mon, 16 May 2022 20:06:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143", "(ERR: Missing)", "Mon, 16 May 2022 00:00:00 -0000", "LMNA,EMD,FHL1", "150330,300384,300163", "Emery-Dreifuss Muscular Dystrophy (AD, XL)", "181350,310300,300696", "Released", "Complete", "Complete", "Complete", "Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy", "GroupA", "Metabolic evaluation", "GroupA", "2", "0D", "3", "2C", "7DC" ], [ "AC102", "/AC102", "Gene-Condition", "Mon, 23 May 2016 00:00:00 -0000", "Wed, 09 Feb 2022 13:18:27 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC102", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "MEFV", "608107", "Familial Mediterranean Fever (AD)", "134610", "Released", "Complete", "Complete", "Complete", "Recurrent serositis", "GroupA", "Colchicine", "GroupA", "1", "0D", "2", "3C", "6DC" ], [ "AC102", "/AC102", "Gene-Condition", "Mon, 23 May 2016 00:00:00 -0000", "Wed, 09 Feb 2022 13:18:27 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC102", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "MEFV", "608107", "Familial Mediterranean Fever (AD)", "134610", "Released", "Complete", "Complete", "Complete", "Amyloidosis", "GroupA", "Colchicine", "GroupA", "1", "0D", "2", "3C", "6DC" ], [ "AC102", "/AC102", "Gene-Condition", "Mon, 23 May 2016 00:00:00 -0000", "Wed, 09 Feb 2022 13:18:27 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC102", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "MEFV", "608107", "Familial Mediterranean Fever (AD)", "134610", "Released", "Complete", "Complete", "Complete", "Joint problems", "GroupA", "Colchicine", "GroupA", "1", "0D", "2", "3C", "6DC" ], [ "AC153", "/AC153", "Gene-Condition", "Thu, 19 Jul 2018 00:00:00 -0000", "Wed, 09 Feb 2022 13:59:12 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC153", "1.2.3", "Wed, 09 Feb 2022 00:00:00 -0000", "F11", "264900", "Factor XI Deficiency", "612416", "Released", "Complete", "Complete", "Complete", "Bleeding complications with pregnancy, procedures or trauma", "GroupA", "Development and implementation of comprehensive management plan based on activity levels and bleeding history by hematology team", "GroupA", "2", "2C", "3", "3N", "10CN" ], [ "AC154", "/AC154", "Gene-Condition", "Fri, 03 Aug 2018 00:00:00 -0000", "Wed, 09 Feb 2022 13:59:48 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC154", "1.2.3", "Wed, 09 Feb 2022 00:00:00 -0000", "GREM1", "603054", "Hereditary mixed polyposis syndrome 1", "601228", "Released", "Complete", "Complete", "Complete", "Colorectal Cancer", "GroupA", "Colonoscopy with polypectomy", "GroupA", "2", "0D", "2", "3B", "7DB" ], [ "AC1009", "/AC1009", "Gene-Condition", "Thu, 12 Mar 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:07:11 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1009", "1.0.3", "Wed, 09 Feb 2022 00:00:00 -0000", "ITGB3,ITGA2B", "173470,607759", "Glanzmann thrombasthenia", "273800,273800", "Released", "Complete", "Complete", "Complete", "Severe or prolonged hemorrhage", "GroupA", "Infusion therapy as indicated by hematology team", "GroupA", "2", "2B", "2", "3B", "9BB" ], [ "AC124", "/AC124", "Gene-Condition", "Mon, 27 Mar 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:44:32 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC124", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "NF1", "613113", "Neurofibromatosis type 1", "162200", "Released", "Incomplete", "Complete", "Complete", "Malignant peripheral nerve sheath tumors", "GroupA", "Consultation with a provider experienced with NF1 for educational purposes", "GroupA", "2", "2C", "3", "0D", "7CD" ], [ "AC124", "/AC124", "Gene-Condition", "Mon, 27 Mar 2017 00:00:00 -0000", "Wed, 09 Feb 2022 13:44:32 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC124", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "NF1", "613113", "Neurofibromatosis type 1", "162200", "Released", "Incomplete", "Complete", "Complete", "Breast Cancer", "GroupA", "Surveillance", "GroupA", "2", "2C", "3", "2B", "9CB" ], [ "AC155", "/AC155", "Gene-Condition", "Thu, 06 Sep 2018 00:00:00 -0000", "Wed, 09 Feb 2022 14:00:23 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC155", "1.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "DES", "125660", "Myofibrillar Myopathy", "601419", "Released", "Complete", "Complete", "Complete", "Clinically significant cardiac involvement (DES)", "GroupA", "Cardiology management", "GroupA", "2", "3A", "3", "2D", "10AD" ], [ "AC155", "/AC155", "Gene-Condition", "Thu, 06 Sep 2018 00:00:00 -0000", "Wed, 09 Feb 2022 14:00:23 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC155", "1.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "DES", "125660", "Myofibrillar Myopathy", "601419", "Released", "Complete", "Complete", "Complete", "Clinically significant cardiac involvement (DES)", "GroupA", "ICD implantation", "GroupA", "2", "3A", "2", "2C", "9AC" ], [ "AC155", "/AC155", "Gene-Condition", "Thu, 06 Sep 2018 00:00:00 -0000", "Wed, 09 Feb 2022 14:00:23 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC155", "1.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "FLNC", "102565", "Myofibrillar Myopathy", "609524", "Released", "Complete", "Complete", "Complete", "Clinically significant cardiac involvement (FLNC)", "GroupB", "Cardiology management", "GroupB", "2", "2A", "3", "2D", "9AD" ], [ "AC155", "/AC155", "Gene-Condition", "Thu, 06 Sep 2018 00:00:00 -0000", "Wed, 09 Feb 2022 14:00:23 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC155", "1.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "FLNC", "102565", "Myofibrillar Myopathy", "609524", "Released", "Complete", "Complete", "Complete", "Clinically significant cardiac involvement (FLNC)", "GroupB", "ICD implantation", "GroupB", "2", "2A", "2", "2D", "8AD" ], [ "AC147", "/AC147", "Gene-Condition", "Wed, 18 Oct 2017 00:00:00 -0000", "Wed, 23 Feb 2022 00:28:34 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC147", "1.4.0", "Tue, 22 Feb 2022 00:00:00 -0000", "SLC2A10", "606145", "Arterial tortuosity syndrome", "208050", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality related to cardiovascular complications", "GroupA", "Evaluation by specialist to detect cardiovascular complications and guide treatment", "GroupA", "2", "3N", "3", "2C", "10NC" ], [ "AC147", "/AC147", "Gene-Condition", "Wed, 18 Oct 2017 00:00:00 -0000", "Wed, 23 Feb 2022 00:28:34 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC147", "1.4.0", "Tue, 22 Feb 2022 00:00:00 -0000", "SLC2A10", "606145", "Arterial tortuosity syndrome", "208050", "Released", "Complete", "Complete", "Complete", "Visual deterioration", "GroupA", "Periodic follow-up in ophthalmology clinic", "GroupA", "1", "2N", "3", "0D", "6ND" ], [ "AC147", "/AC147", "Gene-Condition", "Wed, 18 Oct 2017 00:00:00 -0000", "Wed, 23 Feb 2022 00:28:34 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC147", "1.4.0", "Tue, 22 Feb 2022 00:00:00 -0000", "SLC2A10", "606145", "Arterial tortuosity syndrome", "208050", "Released", "Complete", "Complete", "Complete", "Pregnancy-associated complications", "GroupA", "High risk pregnancy management", "GroupA", "2", "0D", "3", "2N", "7DN" ], [ "AC147", "/AC147", "Gene-Condition", "Wed, 18 Oct 2017 00:00:00 -0000", "Wed, 23 Feb 2022 00:28:34 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC147", "1.4.0", "Tue, 22 Feb 2022 00:00:00 -0000", "SLC2A10", "606145", "Arterial tortuosity syndrome", "208050", "Released", "Complete", "Complete", "Complete", "Adverse effects of sports and other risky physical activities", "GroupA", "Avoid contact sports and other risky physical activities", "GroupA", "2", "0D", "2", "2D", "6DD" ], [ "AC025", "/AC025", "Gene-Condition", "Fri, 11 Jul 2014 00:00:00 -0000", "Mon, 21 Jun 2021 20:50:47 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC025", "2.1.2", "Mon, 21 Jun 2021 00:00:00 -0000", "PTEN", "601728", "PTEN Hamartoma Tumor Syndrome - Cowden Syndrome", "158350", "Released", "Complete", "Complete", "Complete", "Morbidity due to breast cancer", "GroupA", "Surveillance to detect breast tumors and guide treatment", "GroupA", "2", "3C", "3", "2B", "10CB" ], [ "AC025", "/AC025", "Gene-Condition", "Fri, 11 Jul 2014 00:00:00 -0000", "Mon, 21 Jun 2021 20:50:47 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC025", "2.1.2", "Mon, 21 Jun 2021 00:00:00 -0000", "PTEN", "601728", "PTEN Hamartoma Tumor Syndrome - Cowden Syndrome", "158350", "Released", "Complete", "Complete", "Complete", "Morbidity due to thyroid disease", "GroupA", "Surveillance to detect thyroid lesions and guide treatment", "GroupA", "2", "3A", "3", "2C", "10AC" ], [ "AC1044", "/AC1044", "Gene-Condition", "Thu, 04 Nov 2021 00:00:00 -0000", "Wed, 20 Apr 2022 21:05:20 -0000", "Hunter Jessica", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1044", "1.0.1", "Wed, 20 Apr 2022 00:00:00 -0000", "COL4A5,COL4A3,COL4A4", "303630,120070,120131", "Alport syndrome", "301050,104200,203780,203780", "Released", "Complete", "Complete", "Complete", "Progression of renal disease", "GroupA", "Referral to a specialist for evaluation to guide treatment with angiotensin-converting enzyme inhibitors (ACEi)", "GroupA", "2", "3C", "3", "2B", "10CB" ], [ "AC1054", "/AC1054", "Gene-Condition", "Tue, 14 May 2024 00:00:00 -0000", "Tue, 08 Oct 2024 12:51:05 -0000", "Reynolds Elizabeth", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1054", "1.0.2", "Tue, 08 Oct 2024 00:00:00 -0000", "BARD1", "601593", "Hereditary breast carcinoma", "114480", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from breast cancer", "GroupA", "Imaging surveillance to detect breast cancer", "GroupA", "2", "2A", "3", "2B", "9AB" ], [ "AC091", "/AC091", "Gene-Condition", "Mon, 17 Oct 2016 00:00:00 -0000", "Wed, 09 Feb 2022 12:55:09 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC091", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "MET", "164860", "Familial papillary renal cell carcinoma 1", "605074", "Released", "Complete", "Complete", "Complete", "Morbidity/mortality associated with papillary renal cell carcinoma", "GroupA", "Periodic surveillance via renal CT imaging", "GroupA", "2", "3C", "2", "3N", "10CN" ], [ "AC112", "/AC112", "Gene-Condition", "Tue, 16 Nov 2021 00:00:00 -0000", "Mon, 11 Apr 2022 17:54:03 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC112", "2.0.0", "Mon, 11 Apr 2022 00:00:00 -0000", "OTC", "300461", "Ornithine Transcarbamylase Deficiency", "311250", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to hyperammonemic crises (males)", "GroupA", "Referral to a specialist for evaluation, to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises", "GroupA", "2", "3C", "2", "3B", "10CB" ], [ "AC112", "/AC112", "Gene-Condition", "Tue, 16 Nov 2021 00:00:00 -0000", "Mon, 11 Apr 2022 17:54:03 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC112", "2.0.0", "Mon, 11 Apr 2022 00:00:00 -0000", "OTC", "300461", "Ornithine Transcarbamylase Deficiency", "311250", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to hyperammonemic crises (females)", "GroupA", "Referral to a specialist for evaluation, to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises", "GroupA", "2", "3D", "2", "3B", "10DB" ], [ "AC1019", "/AC1019", "Gene-Condition", "Tue, 12 Jan 2021 00:00:00 -0000", "Thu, 21 Apr 2022 16:42:17 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1019", "1.0.2", "Thu, 21 Apr 2022 00:00:00 -0000", "SLC26A4", "605646", "Pendred syndrome", "(No paired disease(s) for gene)", "Released", "Complete", "Complete", "Complete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC142", "/AC142", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Mon, 01 Aug 2022 22:11:23 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC142", "(ERR: Missing)", "Mon, 01 Aug 2022 00:00:00 -0000", "GCDH", "608801", "Glutaric Acidemia I", "231670", "Released", "Complete", "Complete", "Complete", "Neurologic crises and functional decline", "GroupA", "Low protein/lysine diet", "GroupA", "2", "2D", "2", "0D", "6DD" ], [ "AC142", "/AC142", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Mon, 01 Aug 2022 22:11:23 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC142", "(ERR: Missing)", "Mon, 01 Aug 2022 00:00:00 -0000", "GCDH", "608801", "Glutaric Acidemia I", "231670", "Released", "Complete", "Complete", "Complete", "Neurologic crises and functional decline", "GroupA", "Management by metabolic clinic", "GroupA", "2", "2D", "3", "3D", "10DD" ], [ "AC156", "/AC156", "Gene-Condition", "Wed, 03 Oct 2018 00:00:00 -0000", "Thu, 04 May 2023 22:44:33 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC156", "1.2.4", "Thu, 04 May 2023 00:00:00 -0000", "HGD", "607474", "Alkaptonuria", "203500", "Released", "Incomplete", "Complete", "Complete", "Aortic/cardiac disease", "GroupA", "Cardiology follow-up with periodic echocardiogram", "GroupA", "2", "3N", "3", "1C", "9NC" ], [ "AC1047", "/AC1047", "Gene-Condition", "Mon, 02 May 2022 00:00:00 -0000", "Mon, 19 Sep 2022 21:12:39 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1047", "1.0.0", "Mon, 19 Sep 2022 00:00:00 -0000", "SLC22A5", "603377", "Systemic primary carnitine deficiency disease (SPCD)", "212140", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from carnitine deficiency", "GroupB", "Evaluation by a specialist to guide treatment with levocarnitine supplementation and an illness management protocol", "GroupB", "1", "2D", "3", "3C", "9DC" ], [ "AC086", "/AC086", "Gene-Condition", "Fri, 03 Jun 2022 00:00:00 -0000", "Tue, 04 Oct 2022 20:25:17 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC086", "2.0.0", "Tue, 04 Oct 2022 00:00:00 -0000", "CDKN2A", "600160", "Pancreatic cancer/melanoma syndrome", "606719", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from melanoma", "GroupA", "Skin surveillance to detect melanoma and guide melanoma treatment", "GroupA", "2", "2C", "3", "2N", "9CN" ], [ "AC086", "/AC086", "Gene-Condition", "Fri, 03 Jun 2022 00:00:00 -0000", "Tue, 04 Oct 2022 20:25:17 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC086", "2.0.0", "Tue, 04 Oct 2022 00:00:00 -0000", "CDKN2A", "600160", "Pancreatic cancer/melanoma syndrome", "606719", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from pancreatic cancer", "GroupA", "Referral to specialist to guide surveillance plans for early detection of pancreatic cancer or precursors and guide pancreatic cancer treatment", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC063", "/AC063", "Gene-Condition", "Mon, 08 Jul 2024 00:00:00 -0000", "Tue, 29 Oct 2024 18:23:46 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC063", "3.0.0", "Tue, 29 Oct 2024 00:00:00 -0000", "PMP22", "601097", "Hereditary Neuropathy with Liability to Pressure Palsies", "162500", "Released", "Complete", "Complete", "Complete", "Progression of neuropathy", "GroupA", "Avoidance of triggers and neurotoxic drugs", "GroupA", "1", "3C", "3", "1N", "8CN" ], [ "AC1043", "/AC1043", "Gene-Condition", "Wed, 18 Aug 2021 00:00:00 -0000", "Thu, 20 Oct 2022 16:13:27 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1043", "1.0.2", "Thu, 20 Oct 2022 00:00:00 -0000", "G6PD", "305900", "Glucose-6-phosphate dehydrogenase deficiency", "305900", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality associated with hemolysis", "GroupA", "Education and clinical management (eg - enzyme testing prior to surgery) to avoid substances or situations that can induce hemolysis", "GroupA", "2", "0D", "3", "0D", "5DD" ], [ "AC1036", "/AC1036", "Gene-Condition", "Fri, 04 Aug 2023 00:00:00 -0000", "Mon, 04 Mar 2024 21:43:52 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1036", "1.0.0", "Mon, 04 Mar 2024 00:00:00 -0000", "SLC2A1", "138140", "GLUT1 deficiency syndrome", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC1055", "/AC1055", "Gene-Condition", "Wed, 24 Aug 2022 00:00:00 -0000", "Tue, 06 Dec 2022 18:24:04 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1055", "1.0.0", "Tue, 06 Dec 2022 00:00:00 -0000", "MLH1,MSH2,MSH6,PMS2", "120436,609309,600678,600259", "Mismatch repair cancer syndrome (MMRCS)", "276300,619096,619097,619101", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from constitutional mismatch repair deficiency-related neoplasia", "GroupA", "Evaluation and surveillance by specialist(s) to detect neoplasia and guide treatment", "GroupA", "2", "3C", "2", "2N", "9CN" ], [ "AC066", "/AC066", "Gene-Condition", "Mon, 17 Oct 2022 00:00:00 -0000", "Fri, 03 Feb 2023 19:08:55 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC066", "(ERR: Missing)", "Fri, 03 Feb 2023 00:00:00 -0000", "SMAD4,BMPR1A", "600993,601299", "Juvenile polyposis syndrome", "174900,175050,174900", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from GI neoplasia", "GroupA", "Evaluation and surveillance by specialist to guide treatment", "GroupA", "2", "3C", "2", "2C", "9CC" ], [ "AC1045", "/AC1045", "Gene-Condition", "Thu, 10 Mar 2022 00:00:00 -0000", "Thu, 30 Mar 2023 19:17:12 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1045", "1.0.0", "Thu, 30 Mar 2023 00:00:00 -0000", "RPS10,RPS19,RPS24", "603632,603474,602412", "Diamond-Blackfan anemia", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC076", "/AC076", "Gene-Condition", "Tue, 12 Jan 2021 00:00:00 -0000", "Wed, 09 Feb 2022 12:48:53 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076", "2.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "RYR1,CACNA1S", "180901,114208", "Malignant Hyperthermia Susceptibility", "145600,601887", "Released", "Complete", "Complete", "Complete", "Malignant hyperthermia event", "GroupA", "Avoidance of triggering anesthetics", "GroupA", "2", "3C", "3", "3B", "11CB" ], [ "AC076", "/AC076", "Gene-Condition", "Tue, 12 Jan 2021 00:00:00 -0000", "Wed, 09 Feb 2022 12:48:53 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076", "2.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "RYR1,CACNA1S", "180901,114208", "Malignant Hyperthermia Susceptibility", "145600,601887", "Released", "Complete", "Complete", "Complete", "Malignant hyperthermia event", "GroupA", "Awareness of high-risk situations", "GroupA", "2", "3C", "3", "0D", "8CD" ], [ "AC099", "/AC099", "Gene-Condition", "Mon, 09 Sep 2024 00:00:00 -0000", "Mon, 03 Feb 2025 20:35:27 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC099", "2.0.0", "Mon, 03 Feb 2025 00:00:00 -0000", "NOTCH3", "600276", "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1", "125310", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from stroke", "GroupA", "Specialist care and management, including monitoring and controlling vascular risk factors", "GroupA", "2", "2A", "3", "1D", "8AD" ], [ "AC1057", "/AC1057", "Gene-Condition", "Mon, 19 Sep 2022 00:00:00 -0000", "Thu, 04 May 2023 22:59:33 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1057", "1.0.0", "Thu, 04 May 2023 00:00:00 -0000", "ALK", "105590", "Susceptibility to neuroblastoma-3", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC1035", "/AC1035", "Gene-Condition", "Tue, 09 May 2023 00:00:00 -0000", "Mon, 04 Mar 2024 21:37:30 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1035", "1.0.0", "Mon, 04 Mar 2024 00:00:00 -0000", "SCN1A", "182389", "Generalized epilepsy with febrile seizures plus (GEFS+), type 2", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC117", "/AC117", "Gene-Condition", "Fri, 01 Dec 2023 00:00:00 -0000", "Mon, 15 Apr 2024 20:41:31 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC117", "2.0.0", "Mon, 15 Apr 2024 00:00:00 -0000", "ABCD1", "300371", "Adrenoleukodystrophy", "300100", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to cerebral adrenoleukodystrophy (males only)", "GroupA", "Evaluation and surveillance by specialist to guide initiation of hematopoietic cell transplantation or gene therapy", "GroupA", "2", "2D", "1", "2C", "7DC" ], [ "AC117", "/AC117", "Gene-Condition", "Fri, 01 Dec 2023 00:00:00 -0000", "Mon, 15 Apr 2024 20:41:31 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC117", "2.0.0", "Mon, 15 Apr 2024 00:00:00 -0000", "ABCD1", "300371", "Adrenoleukodystrophy", "300100", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to adrenal insufficiency (males only)", "GroupA", "Evaluation and management by specialist to guide hormone replacement", "GroupA", "1", "3C", "3", "3B", "10CB" ], [ "AC1037", "/AC1037", "Gene-Condition", "Mon, 19 Sep 2022 00:00:00 -0000", "Thu, 04 May 2023 23:11:42 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1037", "1.0.1", "Thu, 04 May 2023 00:00:00 -0000", "GAMT,GATM,SLC6A8", "601240,602360,300036", "Cerebral creatine deficiency syndromes", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC087", "/AC087", "Gene-Condition", "Mon, 07 Nov 2022 00:00:00 -0000", "Tue, 07 Mar 2023 17:37:31 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC087", "2.0.0", "Tue, 07 Mar 2023 00:00:00 -0000", "PTCH1", "601309", "Basal Cell Nevus Syndrome (BCNS)", "109400", "Released", "Complete", "Complete", "Complete", "Morbidity from basal cell carcinomas", "GroupA", "Avoidance of sun exposure and radiation", "GroupA", "1", "3C", "3", "0D", "7CD" ], [ "AC087", "/AC087", "Gene-Condition", "Mon, 07 Nov 2022 00:00:00 -0000", "Tue, 07 Mar 2023 17:37:31 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC087", "2.0.0", "Tue, 07 Mar 2023 00:00:00 -0000", "PTCH1", "601309", "Basal Cell Nevus Syndrome (BCNS)", "109400", "Released", "Complete", "Complete", "Complete", "Morbidity from neoplasia", "GroupA", "Evaluation and surveillance by specialists to detect neoplasia and guide treatment", "GroupA", "1", "3C", "3", "0D", "7CD" ], [ "AC135", "/AC135", "Gene-Condition", "Tue, 09 May 2017 00:00:00 -0000", "Thu, 20 Apr 2023 20:04:07 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC135", "1.2.3", "Thu, 20 Apr 2023 00:00:00 -0000", "PROC", "612283", "Thrombophilia due to protein C deficiency", "176860", "Released", "Incomplete", "Complete", "Complete", "Venous thromboembolism", "GroupA", "High risk obstetric care for pregnant women (includes pharmacological prophylaxis)", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC135", "/AC135", "Gene-Condition", "Tue, 09 May 2017 00:00:00 -0000", "Thu, 20 Apr 2023 20:04:07 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC135", "1.2.3", "Thu, 20 Apr 2023 00:00:00 -0000", "PROC", "612283", "Thrombophilia due to protein C deficiency", "176860", "Released", "Incomplete", "Complete", "Complete", "Venous thromboembolism", "GroupA", "Pharmacological prophylaxis in high-risk situations for men and non-pregnant women", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC110", "/AC110", "Gene-Condition", "Mon, 27 Mar 2023 00:00:00 -0000", "Mon, 05 Jun 2023 19:37:55 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC110", "1.2.4", "Mon, 05 Jun 2023 00:00:00 -0000", "PAH", "612349", "Phenylketonuria (PKU)", "261600", "Released", "Complete", "Complete", "Complete", "Adverse pregnancy outcomes", "GroupA", "Pre-conception and pregnancy management by specialists to achieve target phenylalanine levels with dietary and/or pharmacologic therapies", "GroupA", "2", "3C", "2", "0D", "7CD" ], [ "AC1042", "/AC1042", "Gene-Condition", "Thu, 02 Sep 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:31:29 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042", "1.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "RUNX1", "151385", "Hereditary thrombocytopenia and hematological cancer predisposition syndrome", "601399", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality associated with hematological malignancies", "GroupA", "Referral and surveillance to guide appropriate management by hematology team, including potential bone marrow biopsy", "GroupA", "2", "3C", "2", "0D", "7CD" ], [ "AC1042", "/AC1042", "Gene-Condition", "Thu, 02 Sep 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:31:29 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042", "1.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "RUNX1", "151385", "Hereditary thrombocytopenia and hematological cancer predisposition syndrome", "601399", "Released", "Complete", "Complete", "Complete", "Bleeding complications with pregnancy, procedures, or trauma", "GroupA", "Referral and surveillance to guide appropriate management by hematology team", "GroupA", "2", "2C", "3", "2N", "9CN" ], [ "AC132", "/AC132", "Gene-Condition", "Wed, 02 Sep 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:48:57 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC132", "2.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "COL3A1", "120180", "Vascular Ehlers-Danlos Syndrome", "130050", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from arterial or organ rupture", "GroupA", "Referral to specialists to guide appropriate risk management including surveillance for aneurysm", "GroupA", "3", "3C", "3", "1D", "10CD" ], [ "AC1084", "/AC1084", "Gene-Condition", "Thu, 10 Jul 2025 00:00:00 -0000", "Thu, 18 Dec 2025 19:20:12 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1084", "1.0.0", "Thu, 18 Dec 2025 00:00:00 -0000", "CYP27A1", "606530", "Cerebrotendinous xanthomatosis", "213700", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality resulting from progressive lipid accumulation", "GroupA", "Referral to specialist for treatment including bile acids", "GroupA", "2", "3C", "3", "2N", "10CN" ], [ "AC137", "/AC137", "Gene-Condition", "Mon, 12 Jun 2017 00:00:00 -0000", "Thu, 20 Apr 2023 20:03:50 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC137", "1.1.3", "Thu, 20 Apr 2023 00:00:00 -0000", "PROS1", "176880", "Thrombophilia due to protein S deficiency", "612336", "Released", "Incomplete", "Complete", "Complete", "Venous thromboembolism", "GroupA", "High risk obstetric care for pregnant women (includes pharmacological prophylaxis)", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC137", "/AC137", "Gene-Condition", "Mon, 12 Jun 2017 00:00:00 -0000", "Thu, 20 Apr 2023 20:03:50 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC137", "1.1.3", "Thu, 20 Apr 2023 00:00:00 -0000", "PROS1", "176880", "Thrombophilia due to protein S deficiency", "612336", "Released", "Incomplete", "Complete", "Complete", "Venous thromboembolism", "GroupA", "Pharmacological prophylaxis in high-risk situations for men and non-pregnant women", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC1058", "/AC1058", "Gene-Condition", "Mon, 19 Sep 2022 00:00:00 -0000", "Thu, 04 May 2023 23:07:20 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1058", "1.0.0", "Thu, 04 May 2023 00:00:00 -0000", "CA5A", "114761", "Carbonic anhydrase VA deficiency", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC075", "/AC075", "Gene-Condition", "Thu, 22 Dec 2022 00:00:00 -0000", "Wed, 14 Jan 2026 00:01:43 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC075", "2.0.2", "Tue, 13 Jan 2026 00:00:00 -0000", "HNF1A", "142410", "Maturity Onset Diabetes of the Young Type I & Type III", "600496", "Released", "Complete", "Complete", "Complete", "Diabetes-related morbidity and mortality (HNF1A)", "GroupA", "Evaluation by specialist to guide management, including with sulfonylureas", "GroupA", "1", "3N", "3", "3D", "10ND" ], [ "AC075", "/AC075", "Gene-Condition", "Thu, 22 Dec 2022 00:00:00 -0000", "Wed, 14 Jan 2026 00:01:43 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC075", "2.0.2", "Tue, 13 Jan 2026 00:00:00 -0000", "HNF4A", "600281", "Maturity Onset Diabetes of the Young Type I & Type III", "125850", "Released", "Complete", "Complete", "Complete", "Diabetes-related morbidity and mortality (HNF4A)", "GroupB", "Evaluation by specialist to guide management, including with sulfonylureas", "GroupB", "1", "2N", "3", "2D", "8ND" ], [ "AC105", "/AC105", "Gene-Condition", "Mon, 04 Apr 2016 00:00:00 -0000", "Mon, 21 Nov 2022 22:04:16 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105", "1.3.3", "Mon, 21 Nov 2022 00:00:00 -0000", "F5", "612309", "Factor V Leiden, Homozygous (also includes compound heterozygous FVL + prothrombin G20210A)", "188055", "Released", "Incomplete", "Complete", "Complete", "VTE", "GroupA", "Assessment for VTE risk factors", "GroupA", "2", "2C", "Not Scored", "IN", "IN" ], [ "AC105", "/AC105", "Gene-Condition", "Mon, 04 Apr 2016 00:00:00 -0000", "Mon, 21 Nov 2022 22:04:16 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105", "1.3.3", "Mon, 21 Nov 2022 00:00:00 -0000", "F5", "612309", "Factor V Leiden, Homozygous (also includes compound heterozygous FVL + prothrombin G20210A)", "188055", "Released", "Incomplete", "Complete", "Complete", "VTE", "GroupA", "Avoid estrogen-containing compounds that exacerbate VTE risk", "GroupA", "2", "2C", "3", "2D", "9CD" ], [ "AC105", "/AC105", "Gene-Condition", "Mon, 04 Apr 2016 00:00:00 -0000", "Mon, 21 Nov 2022 22:04:16 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105", "1.3.3", "Mon, 21 Nov 2022 00:00:00 -0000", "F5", "612309", "Factor V Leiden, Homozygous (also includes compound heterozygous FVL + prothrombin G20210A)", "188055", "Released", "Incomplete", "Complete", "Complete", "VTE", "GroupA", "Pharmacological prophylaxis for pregnant women", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC105", "/AC105", "Gene-Condition", "Mon, 04 Apr 2016 00:00:00 -0000", "Mon, 21 Nov 2022 22:04:16 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105", "1.3.3", "Mon, 21 Nov 2022 00:00:00 -0000", "F5", "612309", "Factor V Leiden, Homozygous (also includes compound heterozygous FVL + prothrombin G20210A)", "188055", "Released", "Incomplete", "Complete", "Complete", "VTE", "GroupA", "Pharmacological prophylaxis for men and non-pregnant women", "GroupA", "2", "2C", "2", "0D", "6CD" ], [ "AC037", "/AC037", "Gene-Condition", "Mon, 05 Nov 2018 00:00:00 -0000", "Wed, 09 Feb 2022 12:30:36 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC037", "2.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "DNAJB11,GANAB,PKD1,PKD2", "611341,104160,601313,173910", "Autosomal Dominant Polycystic Kidney Disease", "618061,600666,173900,613095", "Released", "Complete", "Complete", "Complete", "Progression to ESRD", "GroupA", "Pharmacologic management of renal function", "GroupA", "2", "3C", "2", "2A", "9CA" ], [ "AC037", "/AC037", "Gene-Condition", "Mon, 05 Nov 2018 00:00:00 -0000", "Wed, 09 Feb 2022 12:30:36 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC037", "2.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "DNAJB11,GANAB,PKD1,PKD2", "611341,104160,601313,173910", "Autosomal Dominant Polycystic Kidney Disease", "618061,600666,173900,613095", "Released", "Complete", "Complete", "Complete", "Neurologic disability or death due to ICA", "GroupA", "ICA surveillance", "GroupA", "3", "0A", "3", "1B", "7AB" ], [ "AC037", "/AC037", "Gene-Condition", "Mon, 05 Nov 2018 00:00:00 -0000", "Wed, 09 Feb 2022 12:30:36 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC037", "2.1.3", "Wed, 09 Feb 2022 00:00:00 -0000", "DNAJB11,GANAB,PKD1,PKD2", "611341,104160,601313,173910", "Autosomal Dominant Polycystic Kidney Disease", "618061,600666,173900,613095", "Released", "Complete", "Complete", "Complete", "Morbidity due to thoracic aortic disease", "GroupA", "TAAD surveillance to guide surgical intervention", "GroupA", "3", "0D", "3", "2C", "8DC" ], [ "AC1016", "/AC1016", "Gene-Condition", "Mon, 03 Aug 2020 00:00:00 -0000", "Mon, 16 Oct 2023 20:13:06 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1016", "1.0.0", "Mon, 16 Oct 2023 00:00:00 -0000", "ACADM", "607008", "Medium-chain acyl coenzyme A dehydrogenase deficiency", "201450", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality associated with metabolic decompensation", "GroupA", "Metabolic management (dietary management and illness protocols)", "GroupA", "2", "2C", "3", "3B", "10CB" ], [ "AC128", "/AC128", "Gene-Condition", "Wed, 15 Jan 2025 00:00:00 -0000", "Fri, 09 May 2025 15:56:14 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC128", "2.0.0", "Fri, 09 May 2025 00:00:00 -0000", "GCH1", "600225", "GCH-1 associated dopa-responsive dystonia", "128230", "Released", "Complete", "Complete", "Complete", "Neuromuscular dysfunction", "GroupA", "Surveillance by specialist to guide levodopa and decarboxylase inhibitor therapy", "GroupA", "1", "3C", "3", "3C", "10CC" ], [ "AC1052", "/AC1052", "Gene-Condition", "Mon, 12 Feb 2024 00:00:00 -0000", "Wed, 10 Jul 2024 16:50:10 -0000", "Hunter Jessica", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1052", "1.0.1", "Wed, 10 Jul 2024 00:00:00 -0000", "SLC25A15", "603861", "Ornithine translocase deficiency", "238970", "Released", "Complete", "Complete", "Complete", "Morbidity due to ornithine translocase deficiency", "GroupA", "Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, and emergency planning", "GroupA", "2", "0D", "2", "2C", "6DC" ], [ "AC041", "/AC041", "Gene-Condition", "Wed, 22 Mar 2023 00:00:00 -0000", "Mon, 08 Jan 2024 23:26:41 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC041", "2.0.1", "Mon, 08 Jan 2024 00:00:00 -0000", "FLCN", "607273", "Birt-Hogg-Dubé syndrome", "135150", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from renal tumors", "GroupA", "Evaluation by specialist with imaging to detect renal tumors and guide treatment.", "GroupA", "2", "2A", "3", "2C", "9AC" ], [ "AC041", "/AC041", "Gene-Condition", "Wed, 22 Mar 2023 00:00:00 -0000", "Mon, 08 Jan 2024 23:26:41 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC041", "2.0.1", "Mon, 08 Jan 2024 00:00:00 -0000", "FLCN", "607273", "Birt-Hogg-Dubé syndrome", "135150", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from pneumothorax", "GroupA", "Anticipatory guidance regarding risk of pneumothorax including need for prompt intervention and imaging before anesthesia", "GroupA", "2", "3A", "3", "0D", "8AD" ], [ "AC080", "/AC080", "Gene-Condition", "Wed, 06 Mar 2019 00:00:00 -0000", "Mon, 18 Oct 2021 21:39:07 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC080", "2.0.2", "Mon, 18 Oct 2021 00:00:00 -0000", "RET", "164761", "Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer", "155240,171400", "Released", "Complete", "Complete", "Complete", "Medullary thyroid cancer", "GroupA", "Prophylactic Thyroidectomy", "GroupA", "2", "3C", "1", "3A", "9CA" ], [ "AC080", "/AC080", "Gene-Condition", "Wed, 06 Mar 2019 00:00:00 -0000", "Mon, 18 Oct 2021 21:39:07 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC080", "2.0.2", "Mon, 18 Oct 2021 00:00:00 -0000", "RET", "164761", "Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer", "155240,171400", "Released", "Complete", "Complete", "Complete", "Pheochromocytoma", "GroupA", "Biochemical surveillance", "GroupA", "2", "3C", "3", "3D", "11CD" ], [ "AC080", "/AC080", "Gene-Condition", "Wed, 06 Mar 2019 00:00:00 -0000", "Mon, 18 Oct 2021 21:39:07 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC080", "2.0.2", "Mon, 18 Oct 2021 00:00:00 -0000", "RET", "164761", "Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer", "155240,171400", "Released", "Complete", "Complete", "Complete", "Hyperparathyroidism", "GroupA", "Biochemical surveillance", "GroupA", "1", "2C", "3", "3D", "9CD" ], [ "AC1061", "/AC1061", "Gene-Condition", "Mon, 11 Sep 2023 00:00:00 -0000", "Tue, 13 Feb 2024 19:50:58 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1061", "1.0.0", "Tue, 13 Feb 2024 00:00:00 -0000", "CDKN1B", "600778", "Multiple endocrine neoplasia type 4", "610755", "Released", "Complete", "Complete", "Complete", "Morbidity from parathyroid adenoma", "GroupA", "Evaluation and management by specialists, including biochemical surveillance to guide imaging and parathyroidectomy", "GroupA", "1", "3N", "3", "3C", "10NC" ], [ "AC1061", "/AC1061", "Gene-Condition", "Mon, 11 Sep 2023 00:00:00 -0000", "Tue, 13 Feb 2024 19:50:58 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1061", "1.0.0", "Tue, 13 Feb 2024 00:00:00 -0000", "CDKN1B", "600778", "Multiple endocrine neoplasia type 4", "610755", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from MEN4-related tumors other than parathyroid adenoma", "GroupA", "Evaluation and management by specialists, including biochemical and imaging surveillance to guide treatment", "GroupA", "2", "0D", "3", "2C", "7DC" ], [ "AC1028", "/AC1028", "Gene-Condition", "Tue, 04 May 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:25:55 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1028", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "ASL", "608310", "Argininosuccinate Lyase Deficiency", "(No paired disease(s) for gene)", "Released", "Failed", "Complete", "Complete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC069", "/AC069", "Gene-Condition", "Wed, 11 Feb 2015 00:00:00 -0000", "Wed, 28 Jun 2023 17:14:24 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC069", "1.1.5", "Wed, 28 Jun 2023 00:00:00 -0000", "MLH1,MSH2,MSH6,PMS2,EPCAM", "120436,609309,600678,600259,185535", "Lynch Syndrome", "609310,120435,614350,614337,613244", "Released", "Complete", "Complete", "Complete", "Colorectal cancer", "GroupA", "Surveillance", "GroupA", "2", "3A", "2", "3A", "10AA" ], [ "AC069", "/AC069", "Gene-Condition", "Wed, 11 Feb 2015 00:00:00 -0000", "Wed, 28 Jun 2023 17:14:24 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC069", "1.1.5", "Wed, 28 Jun 2023 00:00:00 -0000", "MLH1,MSH2,MSH6,PMS2,EPCAM", "120436,609309,600678,600259,185535", "Lynch Syndrome", "609310,120435,614350,614337,613244", "Released", "Complete", "Complete", "Complete", "Endometrial Cancer", "GroupA", "Surveillance", "GroupA", "2", "3A", "2", "1A", "8AA" ], [ "AC069", "/AC069", "Gene-Condition", "Wed, 11 Feb 2015 00:00:00 -0000", "Wed, 28 Jun 2023 17:14:24 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC069", "1.1.5", "Wed, 28 Jun 2023 00:00:00 -0000", "MLH1,MSH2,MSH6,PMS2,EPCAM", "120436,609309,600678,600259,185535", "Lynch Syndrome", "609310,120435,614350,614337,613244", "Released", "Complete", "Complete", "Complete", "Endometrial Cancer", "GroupA", "Risk Reducing Surgery", "GroupA", "2", "3A", "1", "3B", "9AB" ], [ "AC1081", "/AC1081", "Gene-Condition", "Fri, 08 Nov 2024 00:00:00 -0000", "Fri, 23 May 2025 17:43:12 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1081", "1.0.0", "Fri, 23 May 2025 00:00:00 -0000", "HBB", "141900", "Sickle Cell Anemia", "603903", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from pneumococcal infection", "GroupA", "Vaccination and initiation of prophylactic care", "GroupA", "2", "2D", "3", "3B", "10DB" ], [ "AC1081", "/AC1081", "Gene-Condition", "Fri, 08 Nov 2024 00:00:00 -0000", "Fri, 23 May 2025 17:43:12 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1081", "1.0.0", "Fri, 23 May 2025 00:00:00 -0000", "HBB", "141900", "Sickle Cell Anemia", "603903", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from vaso-occlusive crises (including acute chest syndrome)", "GroupA", "Anticipatory guidance and prompt treatment of crises", "GroupA", "2", "3A", "2", "3A", "10AA" ], [ "AC116", "/AC116", "Gene-Condition", "Tue, 29 Jul 2025 00:00:00 -0000", "Mon, 17 Nov 2025 23:37:50 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC116", "2.0.0", "Mon, 17 Nov 2025 00:00:00 -0000", "KRIT1,CCM2,PDCD10", "604214,607929,609118", "Cerebral cavernous malformations 1, 2, and 3", "116860,603284,603258", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to familial cerebral cavernous malformation-related complications including hemorrhage", "GroupA", "Referral to specialist to guide MRI surveillance and treatment (surgery and/or pharmacotherapy)", "GroupA", "2", "2D", "2", "1D", "7DD" ], [ "AC097", "/AC097", "Gene-Condition", "Fri, 23 Jun 2023 00:00:00 -0000", "Fri, 06 Oct 2023 17:08:00 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC097", "2.0.0", "Fri, 06 Oct 2023 00:00:00 -0000", "CBS", "613381", "Cystathionine Beta-Synthase Deficiency", "236200", "Released", "Complete", "Complete", "Complete", "CBS deficiency-related morbidity and mortality from elevated blood homocysteine levels", "GroupA", "Evaluation and management by specialists to achieve and maintain target homocysteine levels", "GroupA", "2", "3C", "2", "3C", "10CC" ], [ "AC097", "/AC097", "Gene-Condition", "Fri, 23 Jun 2023 00:00:00 -0000", "Fri, 06 Oct 2023 17:08:00 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC097", "2.0.0", "Fri, 06 Oct 2023 00:00:00 -0000", "CBS", "613381", "Cystathionine Beta-Synthase Deficiency", "236200", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from thromboembolism", "GroupA", "Prophylactic anti-thrombotic measures when warranted (e.g., pregnancy, immobility)", "GroupA", "2", "2D", "3", "2C", "9DC" ], [ "AC103", "/AC103", "Gene-Condition", "Tue, 04 Jun 2019 00:00:00 -0000", "Wed, 20 Dec 2023 18:07:50 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC103", "1.1.4", "Wed, 20 Dec 2023 00:00:00 -0000", "CDH1", "192090", "Hereditary Diffuse Gastric Cancer", "137215", "Released", "Complete", "Complete", "Complete", "Mortality from gastric cancer", "GroupA", "Risk reducing gastrectomy", "GroupA", "2", "3C", "0", "3B", "8CB" ], [ "AC103", "/AC103", "Gene-Condition", "Tue, 04 Jun 2019 00:00:00 -0000", "Wed, 20 Dec 2023 18:07:50 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC103", "1.1.4", "Wed, 20 Dec 2023 00:00:00 -0000", "CDH1", "192090", "Hereditary Diffuse Gastric Cancer", "137215", "Released", "Complete", "Complete", "Complete", "Mortality from gastric cancer", "GroupA", "Endoscopic surveillance to detect gastric cancer or precursors and guide gastric cancer treatment and/or gastrectomy", "GroupA", "2", "3C", "2", "1C", "8CC" ], [ "AC103", "/AC103", "Gene-Condition", "Tue, 04 Jun 2019 00:00:00 -0000", "Wed, 20 Dec 2023 18:07:50 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC103", "1.1.4", "Wed, 20 Dec 2023 00:00:00 -0000", "CDH1", "192090", "Hereditary Diffuse Gastric Cancer", "137215", "Released", "Complete", "Complete", "Complete", "Mortality from breast cancer", "GroupA", "Imaging surveillance to detect breast cancer and guide initiation of breast cancer treatment", "GroupA", "2", "3C", "3", "2C", "10CC" ], [ "AC103", "/AC103", "Gene-Condition", "Tue, 04 Jun 2019 00:00:00 -0000", "Wed, 20 Dec 2023 18:07:50 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC103", "1.1.4", "Wed, 20 Dec 2023 00:00:00 -0000", "CDH1", "192090", "Hereditary Diffuse Gastric Cancer", "137215", "Released", "Complete", "Complete", "Complete", "Mortality from breast cancer", "GroupA", "Risk reducing mastectomy", "GroupA", "2", "3C", "1", "3D", "9CD" ], [ "AC108", "/AC108", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Fri, 19 Sep 2025 19:31:21 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC108", "2.3.0", "Fri, 19 Sep 2025 00:00:00 -0000", "PALB2", "610355", "PALB2-related cancers", "620442", "Released", "Complete", "Complete", "Complete", "Breast cancer", "GroupA", "Chemoprevention", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC108", "/AC108", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Fri, 19 Sep 2025 19:31:21 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC108", "2.3.0", "Fri, 19 Sep 2025 00:00:00 -0000", "PALB2", "610355", "PALB2-related cancers", "620442", "Released", "Complete", "Complete", "Complete", "Breast cancer", "GroupA", "Mastectomy", "GroupA", "2", "2C", "1", "3B", "8CB" ], [ "AC108", "/AC108", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Fri, 19 Sep 2025 19:31:21 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC108", "2.3.0", "Fri, 19 Sep 2025 00:00:00 -0000", "PALB2", "610355", "PALB2-related cancers", "620442", "Released", "Complete", "Complete", "Complete", "Breast cancer", "GroupA", "Breast cancer surveillance", "GroupA", "2", "2C", "3", "2B", "9CB" ], [ "AC1034", "/AC1034", "Gene-Condition", "Tue, 09 May 2023 00:00:00 -0000", "Mon, 04 Mar 2024 21:40:28 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1034", "1.0.0", "Mon, 04 Mar 2024 00:00:00 -0000", "SCN1A", "182389", "Dravet syndrome", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC028", "/AC028", "Gene-Condition", "Mon, 14 Feb 2022 00:00:00 -0000", "Sun, 24 Mar 2024 14:59:51 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC028", "1.2.4", "Sun, 24 Mar 2024 00:00:00 -0000", "ATP7B", "606882", "Wilson Disease", "277900", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from copper deposition", "GroupA", "Referral to specialist for evaluation and to guide appropriate therapy including diet, copper chelation and zinc therapy", "GroupA", "2", "3C", "2", "3A", "10CA" ], [ "AC012", "/AC012", "Gene-Condition", "Mon, 25 Feb 2019 00:00:00 -0000", "Wed, 24 Sep 2025 21:01:20 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC012", "1.1.0", "Wed, 24 Sep 2025 00:00:00 -0000", "RPE65", "180069", "Biallelic RPE65 Mutation-Associated Retinal Dystrophy", "204100,613794", "Released", "Complete", "Complete", "Complete", "Progression of visual impairment", "GroupA", "Gene therapy limited to clinically affected individuals with viable retinal cells", "GroupA", "2", "3N", "2", "3N", "10NN" ], [ "AC1046", "/AC1046", "Gene-Condition", "Wed, 16 Mar 2022 00:00:00 -0000", "Sun, 24 Mar 2024 15:01:57 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1046", "1.0.2", "Sun, 24 Mar 2024 00:00:00 -0000", "CPS1", "608307", "Carbamoylphosphate synthetase 1 (CPS1) deficiency", "237300", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to hyperammonemic crises", "GroupA", "Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises", "GroupA", "2", "3D", "2", "2D", "9DD" ], [ "AC065", "/AC065", "Gene-Condition", "Tue, 08 May 2018 00:00:00 -0000", "Wed, 03 May 2023 21:10:18 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC065", "3.0.3", "Wed, 03 May 2023 00:00:00 -0000", "LDLR,APOB,PCSK9", "606945,107730,607786", "Homozygous Familial Hypercholesterolemia", "143890,144010,603776", "Released", "Complete", "Complete", "Complete", "Clinical cardiovascular events", "GroupA", "Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal", "GroupA", "3", "3D", "2", "3A", "11DA" ], [ "AC1026", "/AC1026", "Gene-Condition", "Tue, 01 Jun 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:24:05 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1026", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "PPP1CB,SHOC2", "600590,602775", "Noonan syndrome-like with loose anagen hair", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC027", "/AC027", "Gene-Condition", "Tue, 04 Jan 2022 00:00:00 -0000", "Mon, 21 Feb 2022 21:23:08 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC027", "2.0.0", "Mon, 21 Feb 2022 00:00:00 -0000", "VHL", "608537", "Von Hippel-Lindau Syndrome", "193300", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from VHL-related tumors", "GroupA", "Evaluation by specialist with imaging and biochemical testing to detect tumors (or precursors) and guide treatment", "GroupA", "2", "3A", "2", "3B", "10AB" ], [ "AC068", "/AC068", "Gene-Condition", "Fri, 26 Mar 2021 00:00:00 -0000", "Sun, 24 Mar 2024 15:00:11 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC068", "3.0.3", "Sun, 24 Mar 2024 00:00:00 -0000", "TP53", "191170", "Li-Fraumeni Syndrome", "151623", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from Li Fraumeni syndrome-associated cancers", "GroupA", "Cancer surveillance", "GroupA", "2", "3C", "2", "2B", "9CB" ], [ "AC068", "/AC068", "Gene-Condition", "Fri, 26 Mar 2021 00:00:00 -0000", "Sun, 24 Mar 2024 15:00:11 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC068", "3.0.3", "Sun, 24 Mar 2024 00:00:00 -0000", "TP53", "191170", "Li-Fraumeni Syndrome", "151623", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from Li Fraumeni syndrome-associated cancers", "GroupA", "Avoidance of radiotherapy", "GroupA", "2", "3C", "2", "2D", "9CD" ], [ "AC1051", "/AC1051", "Gene-Condition", "Mon, 15 May 2023 00:00:00 -0000", "Mon, 04 Mar 2024 21:47:07 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1051", "1.0.0", "Mon, 04 Mar 2024 00:00:00 -0000", "ARG1", "608313", "Hyperargininemia", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC090", "/AC090", "Gene-Condition", "Fri, 12 May 2023 00:00:00 -0000", "Sun, 24 Mar 2024 15:01:05 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC090", "1.2.6", "Sun, 24 Mar 2024 00:00:00 -0000", "GAA", "606800", "Glycogen Storage Disease 2", "232300", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to acid alpha-glucosidase deficiency", "GroupA", "Evaluation by specialists to guide management including enzyme replacement therapy", "GroupA", "2", "3C", "2", "2A", "9CA" ], [ "AC131", "/AC131", "Gene-Condition", "Wed, 28 Aug 2019 00:00:00 -0000", "Wed, 14 Jan 2026 19:40:38 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC131", "2.0.6", "Wed, 14 Jan 2026 00:00:00 -0000", "KCNQ1,KCNH2", "607542,152427", "Long QT Syndrome, types 1, 2, and 3", "192500,613688", "Released", "Complete", "Complete", "Complete", "Sudden cardiac death (KCNQ1 KCNH2)", "GroupA", "Beta blockers", "GroupA", "3", "2C", "3", "3A", "11CA" ], [ "AC131", "/AC131", "Gene-Condition", "Wed, 28 Aug 2019 00:00:00 -0000", "Wed, 14 Jan 2026 19:40:38 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC131", "2.0.6", "Wed, 14 Jan 2026 00:00:00 -0000", "KCNQ1,KCNH2", "607542,152427", "Long QT Syndrome, types 1, 2, and 3", "192500,613688", "Released", "Complete", "Complete", "Complete", "Sudden cardiac death (KCNQ1 KCNH2)", "GroupA", "Avoidance of QT-prolonging medications", "GroupA", "3", "2C", "3", "3N", "11CN" ], [ "AC131", "/AC131", "Gene-Condition", "Wed, 28 Aug 2019 00:00:00 -0000", "Wed, 14 Jan 2026 19:40:38 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC131", "2.0.6", "Wed, 14 Jan 2026 00:00:00 -0000", "SCN5A", "600163", "Long QT Syndrome, types 1, 2, and 3", "603830", "Released", "Complete", "Complete", "Complete", "Sudden cardiac death (SCN5A)", "GroupB", "Beta blockers", "GroupB", "3", "2C", "3", "2B", "10CB" ], [ "AC131", "/AC131", "Gene-Condition", "Wed, 28 Aug 2019 00:00:00 -0000", "Wed, 14 Jan 2026 19:40:38 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC131", "2.0.6", "Wed, 14 Jan 2026 00:00:00 -0000", "SCN5A", "600163", "Long QT Syndrome, types 1, 2, and 3", "603830", "Released", "Complete", "Complete", "Complete", "Sudden cardiac death (SCN5A)", "GroupB", "Avoidance of QT-prolonging medications", "GroupB", "3", "2C", "3", "3N", "11CN" ], [ "AC1008", "/AC1008", "Gene-Condition", "Mon, 28 Oct 2019 00:00:00 -0000", "Tue, 23 Sep 2025 22:24:52 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1008", "1.2.0", "Tue, 23 Sep 2025 00:00:00 -0000", "FANCA,BRCA2,FANCG,BRIP1,FANCC,PALB2", "607139,600185,602956,605882,613899,610355", "Fanconi Anemia", "227650,605724,614082,609054,613899,610832", "Released", "Complete", "Complete", "Complete", "Morbidity due to bone marrow failure", "GroupA", "Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment", "GroupA", "2", "3C", "2", "2D", "9CD" ], [ "AC1008", "/AC1008", "Gene-Condition", "Mon, 28 Oct 2019 00:00:00 -0000", "Tue, 23 Sep 2025 22:24:52 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1008", "1.2.0", "Tue, 23 Sep 2025 00:00:00 -0000", "FANCA,BRCA2,FANCG,BRIP1,FANCC,PALB2", "607139,600185,602956,605882,613899,610355", "Fanconi Anemia", "227650,605724,614082,609054,613899,610832", "Released", "Complete", "Complete", "Complete", "Morbidity due to FA-related solid tumors", "GroupA", "Evaluation by provider with experience in FA to detect solid tumors and initiate treatment", "GroupA", "2", "2C", "3", "2C", "9CC" ], [ "AC1031", "/AC1031", "Gene-Condition", "Tue, 08 Aug 2023 00:00:00 -0000", "Mon, 05 Feb 2024 22:08:29 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1031", "1.0.0", "Mon, 05 Feb 2024 00:00:00 -0000", "LAMP2", "309060", "Danon disease", "300257", "Released", "Complete", "Complete", "Complete", "Danon-related morbidity and mortality from arrhythmias and heart failure", "GroupA", "Evaluation by specialists to guide surveillance and treatment including consideration for implantable device or heart transplant", "GroupA", "2", "3N", "1", "2N", "8NN" ], [ "AC098", "/AC098", "Gene-Condition", "Tue, 31 May 2022 00:00:00 -0000", "Sun, 24 Mar 2024 15:01:23 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC098", "1.2.5", "Sun, 24 Mar 2024 00:00:00 -0000", "BTD", "609019", "Biotinidase Deficiency", "253260", "Released", "Complete", "Incomplete", "Complete", "Morbidity and mortality from biotin deficiency", "GroupA", "Referral to a metabolic specialist for evaluation and biotin supplementation", "GroupA", "1", "0D", "3", "2C", "6DC" ], [ "AC114", "/AC114", "Gene-Condition", "Tue, 05 Apr 2016 00:00:00 -0000", "Wed, 28 Jun 2023 17:16:12 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC114", "0.0.1", "Wed, 28 Jun 2023 00:00:00 -0000", "HFE", "613609", "Hemochromatosis, Type 1", "235200", "Released", "Complete", "Complete", "Complete", "Clinically apparent disease", "GroupA", "Monitoring of ferritin levels", "GroupA", "2", "2A", "3", "3B", "10AB" ], [ "AC114", "/AC114", "Gene-Condition", "Tue, 05 Apr 2016 00:00:00 -0000", "Wed, 28 Jun 2023 17:16:12 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC114", "0.0.1", "Wed, 28 Jun 2023 00:00:00 -0000", "HFE", "613609", "Hemochromatosis, Type 1", "235200", "Released", "Complete", "Complete", "Complete", "Clinically apparent disease", "GroupA", "Phlebotomy", "GroupA", "2", "2A", "3", "3B", "10AB" ], [ "AC1056", "/AC1056", "Gene-Condition", "Tue, 03 Jan 2023 00:00:00 -0000", "Thu, 27 Apr 2023 19:22:52 -0000", "Henninger Michelle", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1056", "1.0.0", "Thu, 27 Apr 2023 00:00:00 -0000", "NAGS", "608300", "N-Acetyl Glutamate Synthase Deficiency (NAGSD)", "237310", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to hyperammonemia", "GroupA", "Referral to a specialist to guide management, including N-carbamylglutamate, diet, and emergency planning", "GroupA", "2", "0D", "2", "3D", "7DD" ], [ "AC101", "/AC101", "Gene-Condition", "Mon, 23 May 2016 00:00:00 -0000", "Wed, 09 Feb 2022 13:08:21 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC101", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "MEFV", "608107", "Familial Mediterranean Fever (AR)", "249100", "Released", "Complete", "Complete", "Complete", "Recurrent serositis", "GroupA", "Colchicine", "GroupA", "2", "3C", "2", "3A", "10CA" ], [ "AC101", "/AC101", "Gene-Condition", "Mon, 23 May 2016 00:00:00 -0000", "Wed, 09 Feb 2022 13:08:21 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC101", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "MEFV", "608107", "Familial Mediterranean Fever (AR)", "249100", "Released", "Complete", "Complete", "Complete", "Amyloidosis", "GroupA", "Colchicine", "GroupA", "2", "2C", "2", "3B", "9CB" ], [ "AC101", "/AC101", "Gene-Condition", "Mon, 23 May 2016 00:00:00 -0000", "Wed, 09 Feb 2022 13:08:21 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC101", "1.2.2", "Wed, 09 Feb 2022 00:00:00 -0000", "MEFV", "608107", "Familial Mediterranean Fever (AR)", "249100", "Released", "Complete", "Complete", "Complete", "Joint problems", "GroupA", "Colchicine", "GroupA", "2", "3C", "2", "3A", "10CA" ], [ "AC1014", "/AC1014", "Gene-Condition", "Mon, 29 Jun 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:12:57 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1014", "1.0.2", "Wed, 09 Feb 2022 00:00:00 -0000", "OAT", "613349", "Gyrate Atrophy", "258870", "Released", "Complete", "Complete", "Complete", "Progression of visual impairment", "GroupA", "Dietary modification", "GroupA", "2", "3C", "3", "2C", "10CC" ], [ "AC107", "/AC107", "Gene-Condition", "Fri, 26 Aug 2022 00:00:00 -0000", "Sun, 24 Mar 2024 15:03:07 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC107", "2.0.2", "Sun, 24 Mar 2024 00:00:00 -0000", "ENG,ACVRL1,SMAD4", "131195,601284,600993", "Hereditary Hemorrhagic Telangiectasia", "187300,600376,175050", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from AVMs", "GroupB", "Evaluation and surveillance by specialist to guide treatment", "GroupB", "2", "3N", "2", "2B", "9NB" ], [ "AC121", "/AC121", "Gene-Condition", "Mon, 06 Mar 2017 00:00:00 -0000", "Sun, 24 Mar 2024 15:03:44 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC121", "1.2.3", "Sun, 24 Mar 2024 00:00:00 -0000", "PYGM", "608455", "Glycogen Storage Disease V", "232600", "Released", "Complete", "Complete", "Complete", "Rhabdomyolysis, muscle damage, and fixed contractions", "GroupA", "Training for an appropriate exercise regimen", "GroupA", "1", "3N", "3", "2C", "9NC" ], [ "AC133", "/AC133", "Gene-Condition", "Tue, 28 Jan 2014 00:00:00 -0000", "Thu, 14 Aug 2025 23:31:35 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133", "1.1.7", "Thu, 14 Aug 2025 00:00:00 -0000", "BRCA1,BRCA2", "113705,600185", "Hereditary Breast and Ovarian Cancer", "604370,612555", "Released", "Complete", "Complete", "Complete", "Breast Cancer (BRCA1)", "GroupA", "Surveillance", "GroupA", "2", "3A", "3", "2A", "10AA" ], [ "AC133", "/AC133", "Gene-Condition", "Tue, 28 Jan 2014 00:00:00 -0000", "Thu, 14 Aug 2025 23:31:35 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133", "1.1.7", "Thu, 14 Aug 2025 00:00:00 -0000", "BRCA1,BRCA2", "113705,600185", "Hereditary Breast and Ovarian Cancer", "604370,612555", "Released", "Complete", "Complete", "Complete", "Breast Cancer (BRCA1)", "GroupA", "Mastectomy", "GroupA", "2", "3A", "1", "3A", "9AA" ], [ "AC133", "/AC133", "Gene-Condition", "Tue, 28 Jan 2014 00:00:00 -0000", "Thu, 14 Aug 2025 23:31:35 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133", "1.1.7", "Thu, 14 Aug 2025 00:00:00 -0000", "BRCA1,BRCA2", "113705,600185", "Hereditary Breast and Ovarian Cancer", "604370,612555", "Released", "Complete", "Complete", "Complete", "Ovarian Cancer (BRCA1)", "GroupA", "Oophorectomy", "GroupA", "2", "2A", "1", "3A", "8AA" ], [ "AC133", "/AC133", "Gene-Condition", "Tue, 28 Jan 2014 00:00:00 -0000", "Thu, 14 Aug 2025 23:31:35 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133", "1.1.7", "Thu, 14 Aug 2025 00:00:00 -0000", "BRCA1,BRCA2", "113705,600185", "Hereditary Breast and Ovarian Cancer", "604370,612555", "Released", "Complete", "Complete", "Complete", "Breast Cancer (BRCA2)", "GroupA", "Surveillance", "GroupA", "2", "3A", "3", "2A", "10AA" ], [ "AC133", "/AC133", "Gene-Condition", "Tue, 28 Jan 2014 00:00:00 -0000", "Thu, 14 Aug 2025 23:31:35 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133", "1.1.7", "Thu, 14 Aug 2025 00:00:00 -0000", "BRCA1,BRCA2", "113705,600185", "Hereditary Breast and Ovarian Cancer", "604370,612555", "Released", "Complete", "Complete", "Complete", "Breast Cancer (BRCA2)", "GroupA", "Mastectomy", "GroupA", "2", "3A", "1", "3A", "9AA" ], [ "AC133", "/AC133", "Gene-Condition", "Tue, 28 Jan 2014 00:00:00 -0000", "Thu, 14 Aug 2025 23:31:35 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133", "1.1.7", "Thu, 14 Aug 2025 00:00:00 -0000", "BRCA1,BRCA2", "113705,600185", "Hereditary Breast and Ovarian Cancer", "604370,612555", "Released", "Complete", "Complete", "Complete", "Ovarian Cancer (BRCA2)", "GroupA", "Oophorectomy", "GroupA", "2", "2A", "1", "3A", "8AA" ], [ "AC1030", "/AC1030", "Gene-Condition", "Mon, 19 Sep 2022 00:00:00 -0000", "Thu, 04 May 2023 23:10:57 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1030", "1.0.0", "Thu, 04 May 2023 00:00:00 -0000", "GSS", "601002", "Inherited glutathione synthetase deficiency", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC149", "/AC149", "Gene-Condition", "Fri, 10 Nov 2017 00:00:00 -0000", "Sun, 24 Mar 2024 15:04:00 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149", "1.3.4", "Sun, 24 Mar 2024 00:00:00 -0000", "F5", "612309", "F5: Factor V deficiency (AR)", "227400", "Released", "Incomplete", "Complete", "Complete", "Severe or prolonged hemorrhage", "GroupA", "Development and implementation of comprehensive management plan based on activity levels", "GroupA", "2", "3N", "2", "3B", "10NB" ], [ "AC026", "/AC026", "Gene-Condition", "Fri, 17 Dec 2021 00:00:00 -0000", "Tue, 21 Feb 2023 12:48:55 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC026", "1.1.4", "Tue, 21 Feb 2023 00:00:00 -0000", "TSC1,TSC2", "191100,613254", "Tuberous Sclerosis Complex (TSC)", "191100,613254", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from TSC-related lesions", "GroupA", "Evaluation by specialist with imaging to guide possible use of mTORi therapy", "GroupA", "2", "3C", "2", "2B", "9CB" ], [ "AC145", "/AC145", "Gene-Condition", "Mon, 23 Dec 2019 00:00:00 -0000", "Sat, 06 Jan 2024 00:31:55 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC145", "2.0.4", "Fri, 05 Jan 2024 00:00:00 -0000", "TTR", "176300", "Hereditary transthyretin-related amyloidosis", "105210", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from amyloidosis", "GroupA", "Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment", "GroupA", "2", "3C", "2", "2B", "9CB" ], [ "AC145", "/AC145", "Gene-Condition", "Mon, 23 Dec 2019 00:00:00 -0000", "Sat, 06 Jan 2024 00:31:55 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC145", "2.0.4", "Fri, 05 Jan 2024 00:00:00 -0000", "TTR", "176300", "Hereditary transthyretin-related amyloidosis", "105210", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from cardiac amyloidosis", "GroupA", "Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis)", "GroupA", "2", "3C", "3", "3C", "11CC" ], [ "AC122", "/AC122", "Gene-Condition", "Tue, 13 May 2014 00:00:00 -0000", "Wed, 09 Feb 2022 13:43:21 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC122", "2.0.5", "Wed, 09 Feb 2022 00:00:00 -0000", "MCEE,MMAA,MMAB,MMADHC,MUT", "608419,607481,607568,611935,609058", "Methylmalonic Acidemia", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC104", "/AC104", "Gene-Condition", "Thu, 08 Dec 2022 00:00:00 -0000", "Fri, 22 Dec 2023 01:02:00 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC104", "2.0.1", "Thu, 21 Dec 2023 00:00:00 -0000", "GBA", "606463", "Gaucher Disease", "230800", "Released", "Complete", "Complete", "Complete", "Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease)", "GroupA", "Evaluation and management by a multidisciplinary care center for surveillance and initiation of enzyme replacement therapy or substrate reduction therapy, when indicated", "GroupA", "2", "3C", "2", "3A", "10CA" ], [ "AC1010", "/AC1010", "Gene-Condition", "Mon, 25 Nov 2019 00:00:00 -0000", "Wed, 09 Feb 2022 13:09:01 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1010", "1.0.4", "Wed, 09 Feb 2022 00:00:00 -0000", "GALNS", "612222", "Mucopolysaccharidosis Type IVA", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC056", "/AC056", "Gene-Condition", "Mon, 14 Aug 2017 00:00:00 -0000", "Wed, 22 Apr 2020 21:17:11 -0000", "Jenkins Charisma", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC056", "2.1.1", "Wed, 22 Apr 2020 00:00:00 -0000", "ACTC1,CSRP3,MYBPC3,MYH7,MYL2,MYL3,PRKAG2,TNNI3,TNNT2,TPM1", "102540,600824,600958,160760,160781,160790,602743,191044,191045,191010", "Familial Hypertrophic Cardiomyopathy", "612098,612124,115197,192600,608758,608751,600858,613690,115195,115196", "Released", "Complete", "Complete", "Complete", "Sudden Cardiac Death", "GroupA", "ICD Implantation", "GroupA", "3", "2N", "2", "3N", "10NN" ], [ "AC1038", "/AC1038", "Gene-Condition", "Sat, 29 May 2021 00:00:00 -0000", "Wed, 09 Feb 2022 13:27:08 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1038", "0.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "F7", "613878", "Factor VII deficiency", "227500", "Released", "Complete", "Complete", "Complete", "Bleeding complications with pregnancy, procedures or trauma", "GroupA", "Development and implementation of comprehensive management plan by hematology team based on activity levels and bleeding history", "GroupA", "2", "3C", "3", "2B", "10CB" ], [ "AC1015", "/AC1015", "Gene-Condition", "Mon, 02 Nov 2020 21:15:11 -0000", "Wed, 09 Feb 2022 13:14:05 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1015", "1.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "PHYH", "602026", "Refsum disease", "266500", "Released", "Complete", "Complete", "Complete", "Progression of neurologic, cardiac, and ophthalmologic sequalae", "GroupA", "Phytanic acid lowering therapy", "GroupA", "2", "3C", "2", "2D", "9CD" ], [ "AC057", "/AC057", "Gene-Condition", "Tue, 08 May 2018 00:00:00 -0000", "Wed, 28 Jun 2023 17:14:00 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC057", "3.0.4", "Wed, 28 Jun 2023 00:00:00 -0000", "LDLR,APOB,PCSK9", "606945,107730,607786", "Heterozygous Familial Hypercholesterolemia", "143890,144010,603776", "Released", "Complete", "Complete", "Complete", "Clinical cardiovascular events", "GroupA", "Lipid lowering therapy to FH appropriate LDL-C goal", "GroupA", "2", "3C", "3", "2B", "10CB" ], [ "AC048", "/AC048", "Gene-Condition", "Tue, 01 Oct 2019 00:00:00 -0000", "Wed, 09 Feb 2022 12:38:00 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC048", "3.0.5", "Wed, 09 Feb 2022 00:00:00 -0000", "APC", "611731", "Familial Adenomatous Polyposis", "175100", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to colorectal cancer", "GroupA", "Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy", "GroupA", "2", "3C", "2", "3B", "10CB" ], [ "AC048", "/AC048", "Gene-Condition", "Tue, 01 Oct 2019 00:00:00 -0000", "Wed, 09 Feb 2022 12:38:00 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC048", "3.0.5", "Wed, 09 Feb 2022 00:00:00 -0000", "APC", "611731", "Familial Adenomatous Polyposis", "175100", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to advanced-stage thyroid cancer", "GroupA", "Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment", "GroupA", "2", "1A", "3", "2D", "8AD" ], [ "AC048", "/AC048", "Gene-Condition", "Tue, 01 Oct 2019 00:00:00 -0000", "Wed, 09 Feb 2022 12:38:00 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC048", "3.0.5", "Wed, 09 Feb 2022 00:00:00 -0000", "APC", "611731", "Familial Adenomatous Polyposis", "175100", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to upper GI (stomach and duodenum) cancer", "GroupA", "Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment", "GroupA", "2", "2C", "2", "2A", "8CA" ], [ "AC118", "/AC118", "Gene-Condition", "Mon, 12 Aug 2024 00:00:00 -0000", "Thu, 05 Dec 2024 19:15:30 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC118", "1.3.0", "Thu, 05 Dec 2024 00:00:00 -0000", "SLC25A13", "603859", "Citrin Deficiency", "603471", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to hepatic dysfunction in the context of citrin deficiency", "GroupA", "Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, emergency planning, and possible transplant", "GroupA", "2", "0D", "2", "3N", "7DN" ], [ "AC1032", "/AC1032", "Gene-Condition", "Mon, 31 Mar 2025 00:00:00 -0000", "Wed, 06 Aug 2025 23:46:04 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1032", "2.0.0", "Wed, 06 Aug 2025 00:00:00 -0000", "LPIN1", "605518", "LPIN1 Deficiency", "268200", "Released", "Complete", "Complete", "Complete", "Rhabdomyolysis-related morbidity", "GroupA", "Avoidance of triggers and prompt medical management of episodes", "GroupA", "2", "0D", "3", "2B", "7DB" ], [ "AC1048", "/AC1048", "Gene-Condition", "Mon, 05 Feb 2024 00:00:00 -0000", "Wed, 07 Aug 2024 16:49:18 -0000", "Reynolds Elizabeth", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1048", "1.0.0", "Wed, 07 Aug 2024 00:00:00 -0000", "HNF1B", "189907", "Renal cysts and diabetes syndrome (RCAD)", "137920", "Released", "Complete", "Incomplete", "Complete", "Diabetes-related morbidity and mortality", "GroupA", "Evaluation by specialist to guide management", "GroupA", "2", "3N", "3", "2N", "10NN" ], [ "AC1048", "/AC1048", "Gene-Condition", "Mon, 05 Feb 2024 00:00:00 -0000", "Wed, 07 Aug 2024 16:49:18 -0000", "Reynolds Elizabeth", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1048", "1.0.0", "Wed, 07 Aug 2024 00:00:00 -0000", "HNF1B", "189907", "Renal cysts and diabetes syndrome (RCAD)", "137920", "Released", "Complete", "Incomplete", "Complete", "Kidney-related morbidity", "GroupA", "Evaluation by specialist to guide surveillance and management", "GroupA", "2", "3N", "3", "2D", "10ND" ], [ "AC129", "/AC129", "Gene-Condition", "Tue, 19 Mar 2024 00:00:00 -0000", "Fri, 16 Aug 2024 16:00:25 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC129", "3.0.0", "Fri, 16 Aug 2024 00:00:00 -0000", "PMP22,MPZ,LITAF,EGR2,NEFL", "601097,159440,603795,129010,162280", "Charcot - Marie - Tooth Disease, Type 1", "118220,118300,118200,601098,607678,607734", "Released", "Complete", "Complete", "Complete", "Impairments in muscle strength, range of motion, mobility, and balance", "GroupA", "Evaluation by specialists to guide exercise and strength training programs", "GroupA", "1", "3C", "3", "1A", "8CA" ], [ "AC129", "/AC129", "Gene-Condition", "Tue, 19 Mar 2024 00:00:00 -0000", "Fri, 16 Aug 2024 16:00:25 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC129", "3.0.0", "Fri, 16 Aug 2024 00:00:00 -0000", "PMP22,MPZ,LITAF,EGR2,NEFL", "601097,159440,603795,129010,162280", "Charcot - Marie - Tooth Disease, Type 1", "118220,118300,118200,601098,607678,607734", "Released", "Complete", "Complete", "Complete", "Demyelinating peripheral neuropathy", "GroupA", "Avoidance of neurotoxic drugs", "GroupA", "1", "3C", "3", "2N", "9CN" ], [ "AC119", "/AC119", "Gene-Condition", "Tue, 28 Nov 2023 00:00:00 -0000", "Tue, 14 May 2024 18:48:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC119", "2.0.0", "Tue, 14 May 2024 00:00:00 -0000", "CDC73", "607393", "CDC73-Related Conditions", "145000,145001,608266", "Released", "Complete", "Complete", "Complete", "Morbidity from parathyroid neoplasia", "GroupA", "Evaluation and management by specialists, including biochemical and imaging surveillance to guide surgery", "GroupA", "2", "2C", "2", "3C", "9CC" ], [ "AC119", "/AC119", "Gene-Condition", "Tue, 28 Nov 2023 00:00:00 -0000", "Tue, 14 May 2024 18:48:26 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC119", "2.0.0", "Tue, 14 May 2024 00:00:00 -0000", "CDC73", "607393", "CDC73-Related Conditions", "145000,145001", "Released", "Complete", "Complete", "Complete", "Morbidity from CDC73-related non-parathyroid lesions", "GroupB", "Evaluation and management by specialists, including imaging surveillance to guide surgery", "GroupB", "2", "2C", "2", "0D", "6CD" ], [ "AC1007", "/AC1007", "Gene-Condition", "Tue, 15 Nov 2022 00:00:00 -0000", "Sat, 25 Feb 2023 02:28:47 -0000", "Henninger Michelle", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1007", "1.0.0", "Fri, 24 Feb 2023 00:00:00 -0000", "DNAI1,DNAH5,DNAH11,CCDC39,CCDC40,SPAG1,CCNO,DNAAF3,DNAI2,HYDIN,RSPH1,RSPH4A,FOXJ1,MCIDAS,CCDC103,CFAP300,ODAD1,ODAD2,ODAD4", "604366,603335,603339,613798,613799,603395,607752,614566,605483,610812,609314,612647,602291,614086,614677,618058,615038,615408,617095", "Primary Ciliary Dyskinesia (PCD)", "244400,603335,611884,613807,613808,615505,615872,606763,612444,608647,615481,612649,618699,614086,614677,618063,615067,615451,617092", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality secondary to PCD", "GroupB", "Evaluation and management by a multidisciplinary care center with specialization in PCD", "GroupB", "1", "3A", "2", "0D", "6AD" ], [ "AC134", "/AC134", "Gene-Condition", "Fri, 01 Mar 2019 00:00:00 -0000", "Mon, 16 Aug 2021 21:05:02 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC134", "1.1.4", "Mon, 16 Aug 2021 00:00:00 -0000", "ACTA2,FBN1,LOX,MYH11,PRKG1,SMAD3,TGFB2,TGFBR1,TGFBR2", "102620,134797,153455,160745,176894,603109,190220,190181,190182", "Familial thoracic aortic aneurysms and dissections (FTAAD)", "611788,154700,617168,132900,615436,613795,614816,609192,610168", "Released", "Complete", "Complete", "Complete", "Clinically significant aortic aneurysm", "GroupA", "Aortic surveillance", "GroupA", "3", "3C", "3", "2C", "11CC" ], [ "AC134", "/AC134", "Gene-Condition", "Fri, 01 Mar 2019 00:00:00 -0000", "Mon, 16 Aug 2021 21:05:02 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC134", "1.1.4", "Mon, 16 Aug 2021 00:00:00 -0000", "ACTA2,FBN1,LOX,MYH11,PRKG1,SMAD3,TGFB2,TGFBR1,TGFBR2", "102620,134797,153455,160745,176894,603109,190220,190181,190182", "Familial thoracic aortic aneurysms and dissections (FTAAD)", "611788,154700,617168,132900,615436,613795,614816,609192,610168", "Released", "Complete", "Complete", "Complete", "Aortic dilation progression", "GroupA", "Pharmacotherapy", "GroupA", "2", "3C", "3", "2B", "10CB" ], [ "AC1065", "/AC1065", "Variant-Condition", "Fri, 24 May 2024 00:00:00 -0000", "Fri, 07 Feb 2025 21:38:26 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1065", "1.0.0", "Fri, 07 Feb 2025 00:00:00 -0000", "GRCh38 (chrX:?_2782275-155611794_?)x2,GRCh38 (chrY:1-57227415)x1", "(ERR: Missing)", "Klinefelter Syndrome", "", "Released", "Complete", "Complete", "Complete", "Infertility", "GroupA", "Semen collection or testicular sperm extraction (TESE) and cryopreservation", "GroupA", "1", "3A", "2", "2A", "8AA" ], [ "AC1065", "/AC1065", "Variant-Condition", "Fri, 24 May 2024 00:00:00 -0000", "Fri, 07 Feb 2025 21:38:26 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1065", "1.0.0", "Fri, 07 Feb 2025 00:00:00 -0000", "GRCh38 (chrX:?_2782275-155611794_?)x2,GRCh38 (chrY:1-57227415)x1", "(ERR: Missing)", "Klinefelter Syndrome", "", "Released", "Complete", "Complete", "Complete", "Morbidity from hypogonadism", "GroupA", "Surveillance by specialist to guide management including consideration of testosterone supplementation", "GroupA", "1", "3C", "3", "2A", "9CA" ], [ "AC004", "/AC004", "Gene-Condition", "Thu, 09 Jan 2025 00:00:00 -0000", "Wed, 21 May 2025 19:07:23 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC004", "1.0.0", "Wed, 21 May 2025 00:00:00 -0000", "ALPL", "171760", "Hypophosphatasia", "241500,241510,146300", "Released", "Complete", "Complete", "Complete", "Morbidity from hypophosphatasia", "GroupC", "Referral to specialist for management including enzyme replacement therapy as appropriate.", "GroupC", "1", "3N", "2", "2D", "8ND" ], [ "AC044", "/AC044", "Gene-Condition", "Wed, 13 Jul 2016 00:00:00 -0000", "Wed, 09 Feb 2022 12:35:39 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC044", "1.1.2", "Wed, 09 Feb 2022 00:00:00 -0000", "F8,F9", "300841,300746", "Hemophilia A and B", "306700,306900", "Released", "Complete", "Complete", "Complete", "Males: Severe/prolonged hemorrhage", "GroupA", "Development of comprehensive management plan based on activity levels", "GroupA", "2", "3C", "2", "2B", "9CB" ], [ "AC044", "/AC044", "Gene-Condition", "Wed, 13 Jul 2016 00:00:00 -0000", "Wed, 09 Feb 2022 12:35:39 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC044", "1.1.2", "Wed, 09 Feb 2022 00:00:00 -0000", "F8,F9", "300841,300746", "Hemophilia A and B", "306700,306900", "Released", "Complete", "Complete", "Complete", "Females: Severe/prolonged hemorrhage", "GroupA", "Development of comprehensive management plan based on activity levels", "GroupA", "2", "2C", "3", "2B", "9CB" ], [ "AC1027", "/AC1027", "Gene-Condition", "Mon, 21 Jun 2021 00:00:00 -0000", "Fri, 30 May 2025 14:29:53 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1027", "1.0.3", "Fri, 30 May 2025 00:00:00 -0000", "GBA,LRRK2,PARK2,PARK7,PINK1,SNCA,VPS13C,VPS35", "606463,609007,602544,602533,608309,163890,608879,601501", "Early-Onset and Late-Onset Adult Monogenic Parkinson Disease", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC106", "/AC106", "Gene-Condition", "Mon, 02 Nov 2015 00:00:00 -0000", "Sun, 24 Mar 2024 15:02:49 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC106", "1.4.4", "Sun, 24 Mar 2024 00:00:00 -0000", "F5", "612309", "Factor V Leiden, Heterozygous", "188055", "Released", "Incomplete", "Complete", "Complete", "VTE", "GroupA", "Assessment for VTE risk factors", "GroupA", "2", "2C", "Not Scored", "IN", "IN" ], [ "AC106", "/AC106", "Gene-Condition", "Mon, 02 Nov 2015 00:00:00 -0000", "Sun, 24 Mar 2024 15:02:49 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC106", "1.4.4", "Sun, 24 Mar 2024 00:00:00 -0000", "F5", "612309", "Factor V Leiden, Heterozygous", "188055", "Released", "Incomplete", "Complete", "Complete", "VTE", "GroupA", "Avoid estrogen-containing compounds that exacerbate VTE risk", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC106", "/AC106", "Gene-Condition", "Mon, 02 Nov 2015 00:00:00 -0000", "Sun, 24 Mar 2024 15:02:49 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC106", "1.4.4", "Sun, 24 Mar 2024 00:00:00 -0000", "F5", "612309", "Factor V Leiden, Heterozygous", "188055", "Released", "Incomplete", "Complete", "Complete", "VTE", "GroupA", "Pharmacological prophylaxis", "GroupA", "2", "2C", "1", "0A", "5CA" ], [ "AC152", "/AC152", "Gene-Condition", "Thu, 05 Jul 2018 00:00:00 -0000", "Wed, 09 Feb 2022 13:58:38 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC152", "1.1.4", "Wed, 09 Feb 2022 00:00:00 -0000", "POLE", "174762", "POLE and POLD1 associated susceptibility to CRC", "615083", "Released", "Complete", "Complete", "Complete", "Colorectal Cancer", "GroupA", "Colonoscopy with polypectomy", "GroupA", "2", "2B", "2", "3B", "9BB" ], [ "AC152", "/AC152", "Gene-Condition", "Thu, 05 Jul 2018 00:00:00 -0000", "Wed, 09 Feb 2022 13:58:38 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC152", "1.1.4", "Wed, 09 Feb 2022 00:00:00 -0000", "POLD1", "174761", "POLE and POLD1 associated susceptibility to CRC", "612591", "Released", "Complete", "Complete", "Complete", "Colorectal Cancer", "GroupB", "Colonoscopy with polypectomy", "GroupB", "2", "3B", "2", "3B", "10BB" ], [ "AC093", "/AC093", "Gene-Condition", "Mon, 26 Aug 2024 00:00:00 -0000", "Fri, 20 Dec 2024 19:52:26 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC093", "2.0.0", "Fri, 20 Dec 2024 00:00:00 -0000", "SERPINA1", "107400", "Alpha-1 Antitrypsin Deficiency", "613490", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from lung disease", "GroupA", "AAT augmentation therapy", "GroupA", "2", "3D", "2", "1A", "8DA" ], [ "AC093", "/AC093", "Gene-Condition", "Mon, 26 Aug 2024 00:00:00 -0000", "Fri, 20 Dec 2024 19:52:26 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC093", "2.0.0", "Fri, 20 Dec 2024 00:00:00 -0000", "SERPINA1", "107400", "Alpha-1 Antitrypsin Deficiency", "613490", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from lung disease", "GroupA", "Avoidance of environmental exposures including cigarette smoke", "GroupA", "2", "3D", "2", "2C", "9DC" ], [ "AC093", "/AC093", "Gene-Condition", "Mon, 26 Aug 2024 00:00:00 -0000", "Fri, 20 Dec 2024 19:52:26 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC093", "2.0.0", "Fri, 20 Dec 2024 00:00:00 -0000", "SERPINA1", "107400", "Alpha-1 Antitrypsin Deficiency", "613490", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality from liver disease", "GroupA", "Surveillance by specialist to guide management including consideration of liver transplant", "GroupA", "2", "2A", "1", "3A", "8AA" ], [ "AC157", "/AC157", "Gene-Condition", "Mon, 10 Dec 2018 00:00:00 -0000", "Wed, 09 Feb 2022 14:01:33 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC157", "1.2.4", "Wed, 09 Feb 2022 00:00:00 -0000", "CP", "117700", "Aceruloplasminemia", "604290", "Released", "Complete", "Complete", "Complete", "Morbidity due to iron accumulation", "GroupA", "Iron chelation and avoidance of iron supplementation", "GroupA", "2", "3C", "3", "2D", "10CD" ], [ "AC008", "/AC008", "Gene-Condition", "Thu, 13 Apr 2023 00:00:00 -0000", "Mon, 21 Aug 2023 21:54:36 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC008", "1.0.0", "Mon, 21 Aug 2023 00:00:00 -0000", "ALDOB", "612724", "Hereditary fructose intolerance", "229600", "Released", "Complete", "Complete", "Complete", "Morbidity associated with hereditary fructose intolerance including organ failure", "GroupA", "Avoidance of dietary, iatrogenic, or acute exposure to fructose, sucrose, and sorbitol", "GroupA", "2", "0D", "2", "3D", "7DD" ], [ "AC127", "/AC127", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Mon, 01 Aug 2022 22:07:55 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC127", "(ERR: Missing)", "Mon, 01 Aug 2022 00:00:00 -0000", "ATM,CHEK2", "607585,604373", "Breast Cancer", "114480,114480", "Released", "Incomplete", "Complete", "Complete", "Breast Cancer (ATM)", "GroupA", "Chemoprevention", "GroupA", "2", "2A", "2", "2B", "8AB" ], [ "AC127", "/AC127", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Mon, 01 Aug 2022 22:07:55 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC127", "(ERR: Missing)", "Mon, 01 Aug 2022 00:00:00 -0000", "ATM,CHEK2", "607585,604373", "Breast Cancer", "114480,114480", "Released", "Incomplete", "Complete", "Complete", "Breast Cancer (ATM)", "GroupA", "Surveillance", "GroupA", "2", "2A", "3", "2B", "9AB" ], [ "AC127", "/AC127", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Mon, 01 Aug 2022 22:07:55 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC127", "(ERR: Missing)", "Mon, 01 Aug 2022 00:00:00 -0000", "ATM,CHEK2", "607585,604373", "Breast Cancer", "114480,114480", "Released", "Incomplete", "Complete", "Complete", "Breast cancer (CHEK2)", "GroupA", "Chemoprevention", "GroupA", "2", "2C", "2", "2B", "8CB" ], [ "AC127", "/AC127", "Gene-Condition", "Tue, 19 Sep 2017 00:00:00 -0000", "Mon, 01 Aug 2022 22:07:55 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC127", "(ERR: Missing)", "Mon, 01 Aug 2022 00:00:00 -0000", "ATM,CHEK2", "607585,604373", "Breast Cancer", "114480,114480", "Released", "Incomplete", "Complete", "Complete", "Breast cancer (CHEK2)", "GroupA", "Surveillance", "GroupA", "2", "2C", "3", "2B", "9CB" ], [ "AC1005", "/AC1005", "Gene-Condition", "Thu, 30 Jan 2020 00:00:00 -0000", "Wed, 09 Feb 2022 13:04:47 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1005", "1.0.1", "Wed, 09 Feb 2022 00:00:00 -0000", "FGFR3", "134934", "Achondroplasia", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC1080", "/AC1080", "Gene-Condition", "Mon, 07 Oct 2024 00:00:00 -0000", "Wed, 21 May 2025 19:14:17 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1080", "1.0.0", "Wed, 21 May 2025 00:00:00 -0000", "FGFR3", "134934", "Hypochondroplasia", "(No paired disease(s) for gene)", "Released", "Failed", "Incomplete", "Incomplete", null, "N/A", null, "N/A", null, null, null, null, null ], [ "AC146", "/AC146", "Gene-Condition", "Mon, 11 Sep 2017 00:00:00 -0000", "Mon, 14 Mar 2022 17:54:33 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC146", "1.2.4", "Mon, 14 Mar 2022 00:00:00 -0000", "BMPR2", "600799", "Primary pulmonary hypertension 1", "178600", "Released", "Complete", "Complete", "Complete", "Deterioration of pulmonary and cardiac function", "GroupA", "Annual echocardiogram", "GroupA", "2", "2C", "3", "1B", "8CB" ], [ "AC146", "/AC146", "Gene-Condition", "Mon, 11 Sep 2017 00:00:00 -0000", "Mon, 14 Mar 2022 17:54:33 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC146", "1.2.4", "Mon, 14 Mar 2022 00:00:00 -0000", "BMPR2", "600799", "Primary pulmonary hypertension 1", "178600", "Released", "Complete", "Complete", "Complete", "Deterioration of pulmonary and cardiac function", "GroupA", "Pharmacotherapy", "GroupA", "2", "2C", "3", "1A", "8CA" ], [ "AC146", "/AC146", "Gene-Condition", "Mon, 11 Sep 2017 00:00:00 -0000", "Mon, 14 Mar 2022 17:54:33 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC146", "1.2.4", "Mon, 14 Mar 2022 00:00:00 -0000", "BMPR2", "600799", "Primary pulmonary hypertension 1", "178600", "Released", "Complete", "Complete", "Complete", "Deterioration of pulmonary and cardiac function", "GroupA", "Avoidance of exacerbating exposures", "GroupA", "2", "2C", "3", "0C", "7CC" ], [ "AC126", "/AC126", "Gene-Condition", "Sat, 08 Mar 2025 00:00:00 -0000", "Wed, 13 Aug 2025 22:58:40 -0000", "Gilmore Mari", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC126", "2.0.0", "Wed, 13 Aug 2025 00:00:00 -0000", "ACADVL", "609575", "Very Long Chain Actyl-CoA Dehydrogenase Deficiency (VLCAD)", "201475", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to VLCAD deficiency", "GroupA", "Surveillance by specialists to guide management, including diet, emergency planning, triheptanoin therapy, and prevention of secondary complications", "GroupA", "2", "0D", "2", "2C", "6DC" ], [ "AC138", "/AC138", "Gene-Condition", "Thu, 21 Aug 2025 00:00:00 -0000", "Tue, 24 Feb 2026 19:30:33 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC138", "3.0.0", "Tue, 24 Feb 2026 00:00:00 -0000", "DMD,LMNA,TNNT2,TTN,MYH7,FLNC,BAG3,DES,SCN5A,RBM20,TNNC1,PLN,DSP", "300377,150330,191045,188840,160760,102565,603883,125660,600163,613171,191040,172405,125647", "Dilated cardiomyopathy", "302045,115200,601494,604145,613426,617047,613881,604765,601154,613172,611879,609909,615821", "Released", "Complete", "Complete", "Complete", "Sudden cardiac death", "GroupA", "Surveillance by specialists to guide consideration of implantable cardioverter defibrillator (ICD)", "GroupA", "3", "2C", "2", "3B", "10CB" ], [ "AC138", "/AC138", "Gene-Condition", "Thu, 21 Aug 2025 00:00:00 -0000", "Tue, 24 Feb 2026 19:30:33 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC138", "3.0.0", "Tue, 24 Feb 2026 00:00:00 -0000", "DMD,LMNA,TNNT2,TTN,MYH7,FLNC,BAG3,DES,SCN5A,RBM20,TNNC1,PLN,DSP", "300377,150330,191045,188840,160760,102565,603883,125660,600163,613171,191040,172405,125647", "Dilated cardiomyopathy", "302045,115200,601494,604145,613426,617047,613881,604765,601154,613172,611879,609909,615821", "Released", "Complete", "Complete", "Complete", "Sudden cardiac death", "GroupA", "Surveillance by specialists to guide pharmacotherapy", "GroupA", "3", "2C", "3", "2B", "10CB" ], [ "AC138", "/AC138", "Gene-Condition", "Thu, 21 Aug 2025 00:00:00 -0000", "Tue, 24 Feb 2026 19:30:33 -0000", "Cope Heidi", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC138", "3.0.0", "Tue, 24 Feb 2026 00:00:00 -0000", "DMD,LMNA,TNNT2,TTN,MYH7,FLNC,BAG3,DES,SCN5A,RBM20,TNNC1,PLN,DSP", "300377,150330,191045,188840,160760,102565,603883,125660,600163,613171,191040,172405,125647", "Dilated cardiomyopathy", "302045,115200,601494,604145,613426,617047,613881,604765,601154,613172,611879,609909,615821", "Released", "Complete", "Complete", "Complete", "Heart failure", "GroupA", "Surveillance by specialists to guide pharmacotherapy", "GroupA", "2", "3N", "3", "3B", "11NB" ], [ "AC070", "/AC070", "Gene-Condition", "Wed, 31 Jan 2018 00:00:00 -0000", "Wed, 09 Feb 2022 12:46:58 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC070", "2.2.3", "Wed, 09 Feb 2022 00:00:00 -0000", "MUTYH", "604933", "MUTYH-Associated Polyposis", "608456", "Released", "Complete", "Complete", "Complete", "Colorectal cancer", "GroupA", "Colonoscopy with polypectomy", "GroupA", "2", "3C", "2", "3C", "10CC" ], [ "AC070", "/AC070", "Gene-Condition", "Wed, 31 Jan 2018 00:00:00 -0000", "Wed, 09 Feb 2022 12:46:58 -0000", "Administrator Account Genboree", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC070", "2.2.3", "Wed, 09 Feb 2022 00:00:00 -0000", "MUTYH", "604933", "MUTYH-Associated Polyposis", "608456", "Released", "Complete", "Complete", "Complete", "Upper GI (stomach or duodenum) cancer", "GroupA", "Upper Endoscopy with polypectomy", "GroupA", "2", "2C", "2", "2D", "8CD" ], [ "AC1017", "/AC1017", "Gene-Condition", "Mon, 26 Oct 2020 00:00:00 -0000", "Mon, 16 Oct 2023 20:27:56 -0000", "Pak Christine", "Adult", "https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1017", "1.0.0", "Mon, 16 Oct 2023 00:00:00 -0000", "ASS1", "603470", "Citrullinemia", "215700", "Released", "Complete", "Complete", "Complete", "Morbidity and mortality due to metabolic decompensation", "GroupA", "Referral to specialist to guide metabolic management", "GroupA", "2", "2N", "3", "3C", "10NC" ] ] }