{ "@context": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023", "id": "CG-AC:AC1023", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "27529", "producedAtUTC": "Thu, 10 Sep 2026 20:44:30 -0000", "note": "DISCLAIMER: The SEPIO-inspired schema presented here is an initial prototype for Clinical Actionability curation summaries and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema." }, "description": "JSON-LD representation of ClinGen Actionability Stage 2 report modeled with SEPIO. The hierarchically structured document will include:\n1. Contextual & topic information, such as the **conditions/diseases** and the **genes**.\n2. Categorized **evidence narratives**, with references.\n\t* This content corresponds to the texts within the *Actionability Summary Report*\n4. **Outcome & Intervention** pairs, with **consensus scoring** in 5 dimensions:\n\t1. Outcome Severity\n\t2. Outcome Likelihood\n\t3. Intervention Effectiveness\n\t4. Nature of the Intervention\n\t5. Total (Overall) Score\n\n*( Note: The summary report does not include the **Screening Survey** which led to preparation of the actionability report. )", "condition": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/co", "id": "CG-AC:AC1023/co", "type": "GeneticCondition", "label": "Noonan Syndrome with Multiple Lentigines" }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ou/Cardiac%20manifestations", "id": "CG-AC:AC1023/ou/Cardiac manifestations", "type": "Outcome", "label": "Cardiac manifestations" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/intv/Cardiac%20surveillance%20including%20cardiac%20imaging%20and%20electrocardiogram", "id": "CG-AC:AC1023/intv/Cardiac surveillance including cardiac imaging and electrocardiogram", "type": "Intervention", "label": "Cardiac surveillance including cardiac imaging and electrocardiogram" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/cap", "id": "CG-AC:AC1023/cap", "type": "Assertion", "assertionMethod": "The ClinGen AWG developed a standardized protocol to generate evidence-based profiles of clinical actionability of genes and associated disorders in the form of summary reports and semiquantitative metric (SQM) scores.", "releaseDate": "Wed, 09 Feb 2022 00:00:00 -0000", "releaseNum": "1.0.1", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/en/potgd", "id": "CG-AC:AC1023/en/potgd", "type": "EvidenceNarrative", "narrative": "The population prevalence of Noonan syndrome with multiple lentigines (NSML) is not known. About 300 cases have been described to date.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF003127", "CG-AC:RF003128" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/en/nh", "id": "CG-AC:AC1023/en/nh", "type": "EvidenceNarrative", "narrative": "Birth weight is usually normal, but postnatal growth retardation may result in short stature, with most having a height less than the 25th percentile for age. Issues such as adult height and response to growth hormone therapy have not been studied in this disorder. Heart defects typically appear during infancy and are sometimes progressive. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty and are usually preceded by café au lait macules. Males are more likely than females to be affected with NSML, either as a result of bias of ascertainment or preferential survival of affected male fetuses, as proposed for Noonan syndrome. Life expectancy is normal in most affected patients, with the exception of patients with severe HCM. The prognosis is mainly related to the severity of cardiac manifestations.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF003127", "CG-AC:RF003128" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/en/cf", "id": "CG-AC:AC1023/en/cf", "type": "EvidenceNarrative", "narrative": "The cardinal features of NSML are cutaneous lentigines, hypertrophic cardiomyopathy (HCM), short stature, pectus deformity, and dysmorphic facial features, including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. Other dermatologic features include café au lait macules and skin hyperelasticity. Other cardiac issues include pulmonary valve stenosis (PVS), abnormalities of the aortic and mitral valves, and electrocardiogram anomalies. Sensorineural hearing deficits may be present, but minimal information is available about progression of deafness in those with milder hearing impairment. Intellectual disability, if present, is typically mild. However, specific information about the deficits typically found is not available. Cryptorchidism, unilateral or bilateral, may be present. Other genitourinary abnormalities include hypospadias, urinary tract defects, and ovarian abnormalities. NSML can also be associated with the development of neuroblastoma, acute myeloid leukemia, and acute lymphoblastic leukemia.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF003127", "CG-AC:RF003128", "CG-AC:RF003129" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/en/ACMI2639", "id": "CG-AC:AC1023/en/ACMI2639", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF003127", "CG-AC:RF003128", "CG-AC:RF003129" ] } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/NOI2793", "id": "CG-AC:AC1023/ten/NOI2793", "type": "TieredEvidenceNarrative", "narrative": "NSML is a multisystem disorder that requires various tests, screening, assessments, referrals, and multidisciplinary interventions at different stages of life. If anomalies are found in any system, periodic follow up should be planned and lifelong monitoring may be necessary, especially of cardiovascular abnormalities.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/CDEC2787", "id": "CG-AC:AC1023/ten/CDEC2787", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "NSML clinical diagnosis may be difficult in the absence of characteristic lentigines and patients may have an initial diagnosis of Noonan syndrome. In addition, NSML has phenotype overlap with other syndromes, such as Turner and Williams syndromes. Affected adults may be diagnosed only after the birth of a more obviously affected infant.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF003127", "CG-AC:RF003128" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/PGM2737", "id": "CG-AC:AC1023/ten/PGM2737", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Pathogenic variants in PTPN11 account for an estimated 90% of cases of NSML.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/ACPE3951", "id": "CG-AC:AC1023/ten/ACPE3951", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Café au lait macules are also observed in up to 70%-80% of affected individuals.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/ACPE3952", "id": "CG-AC:AC1023/ten/ACPE3952", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Intellectual disability is observed in approximately 30%.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/ACPE3953", "id": "CG-AC:AC1023/ten/ACPE3953", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Sensorineural hearing deficits are present in approximately 20%.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/ACPE3950", "id": "CG-AC:AC1023/ten/ACPE3950", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "Approximately 85% of affected individuals have heart defects.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/ACPE3948", "id": "CG-AC:AC1023/ten/ACPE3948", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Postnatal growth retardation resulting in short stature occurs in up 50% of affected persons, although most affected individuals have a height that is less than the 25th percentile for age. About 25% have short stature in adulthood.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003127", "CG-AC:RF003128" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/ACPE3949", "id": "CG-AC:AC1023/ten/ACPE3949", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "Overall, penetrance of NSML is difficult to determine because of ascertainment bias and variable expressivity, frequently with subtlety of phenotypic features.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/EN2791", "id": "CG-AC:AC1023/ten/EN2791", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "NSML has variable expressivity; affected adults may be diagnosed only after the birth of a more obviously affected infant.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/ten/REC2151", "id": "CG-AC:AC1023/ten/REC2151", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "HCM is detected in up to 70%, PVS in approximately 25%, and ECG abnormalities in 23%.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF003127" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/tr/ACSU3576", "id": "CG-AC:AC1023/tr/ACSU3576", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Recommended surveillance includes:\n• If any anomalies are found, periodic follow up should be planned and lifelong monitoring may be necessary, especially a cardiovascular abnormality\n• Twice-yearly examination by a physician familiar with hereditary hearing impairment and repeat audiometry to confirm the stability of the hearing loss\n• Routine monitoring of intellectual and developmental disabilities\n• Routine surveillance for growth delay and linear growth.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/tr/ACPM5342", "id": "CG-AC:AC1023/tr/ACPM5342", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Affected women with HCM or valve dysfunction may be at risk for development or exacerbation of heart failure during pregnancy. The cardiac status in these women should be monitored, especially during the second and third trimesters of pregnancy.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/tr/ACPM5340", "id": "CG-AC:AC1023/tr/ACPM5340", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Developmental disability is managed by early intervention programs and individualized education strategies. For individuals diagnosed in infancy, early intervention may limit the extent of intellectual and developmental disabilities.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/tr/ACPM5343", "id": "CG-AC:AC1023/tr/ACPM5343", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Treatment of hearing loss can include hearing aids, enrollment in an educational program for the hearing impaired, and consideration of cochlear implantation. It should be recognized that, as distinct from many clinical conditions, the management and treatment of severe-to-profound congenital deafness involves primarily the social welfare and educational systems rather than the medical care system.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003127", "CG-AC:RF003128" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/tr/ACPM5341", "id": "CG-AC:AC1023/tr/ACPM5341", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "To establish the extent of disease and needs in an individual diagnosed with NSML, the following evaluations are recommended:\n• Complete physical and neurologic examination\n• Plotting of growth parameters on Noonan syndrome growth charts (specific growth charts for NSML are not available)\n• Cardiac evaluation with echocardiography and electrocardiography\n• Ophthalmologic evaluation\n• Hearing evaluation including complete assessment of auditory acuity using age-appropriate tests\n• Renal ultrasound examination\n• Clinical and radiographic assessment of spine and rib cage\n• Brain and cervical spine MRI if neurologic symptoms are present\n• Multidisciplinary developmental evaluation\n• Consultation with a clinical geneticist and/or genetic counselor.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/tr/ACPM5339", "id": "CG-AC:AC1023/tr/ACPM5339", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "Treatment of cardiovascular anomalies and cryptorchidism is the same as in the general population.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF003127", "CG-AC:RF003128" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/tr/ACCA3264", "id": "CG-AC:AC1023/tr/ACCA3264", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "In individuals with HCM, treatment with growth hormone must be undertaken with great caution, if at all, to avoid exacerbating a cardiac condition.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003127" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/tr/ACCA3265", "id": "CG-AC:AC1023/tr/ACCA3265", "type": "TieredRecommendation", "evidenceSourceTier": "4", "recommendation": "For individuals with HCM, certain physical activities may be curtailed to reduce the risk of sudden cardiac death.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid", "publication": [ "CG-AC:RF003127" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei", "id": "CG-AC:AC1023/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/nott", "id": "CG-AC:AC1023/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pgd", "id": "CG-AC:AC1023/oei/pgd", "type": "EvidenceItem", "keyText": "Unknown", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC1023/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/cf", "id": "CG-AC:AC1023/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC1023/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/nh", "id": "CG-AC:AC1023/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC1023/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/tmc", "id": "CG-AC:AC1023/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/moi", "id": "CG-AC:AC1023/oei/moi", "type": "EvidenceItem", "keyText": "Autosomal Dominant", "evidenceNarrative": { "@id": "CG-AC:AC1023/en/ACMI2639" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pgm", "id": "CG-AC:AC1023/oei/pgm", "type": "EvidenceItem", "keyText": ">1-2 in 100", "sourceOfPopulation": "Other", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/PGM2737" } }, "penetrance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pe/ACPE3949", "id": "CG-AC:AC1023/oei/pe/ACPE3949", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/ACPE3949" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pe/ACPE3950", "id": "CG-AC:AC1023/oei/pe/ACPE3950", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/ACPE3950" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pe/REC2151", "id": "CG-AC:AC1023/oei/pe/REC2151", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/REC2151" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pe/ACPE3948", "id": "CG-AC:AC1023/oei/pe/ACPE3948", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/ACPE3948" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pe/ACPE3953", "id": "CG-AC:AC1023/oei/pe/ACPE3953", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/ACPE3953" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pe/ACPE3952", "id": "CG-AC:AC1023/oei/pe/ACPE3952", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/ACPE3952" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/pe/ACPE3951", "id": "CG-AC:AC1023/oei/pe/ACPE3951", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/ACPE3951" } } ], "expressivity": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/oei/ex/EN2791", "id": "CG-AC:AC1023/oei/ex/EN2791", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/EN2791" } } ] } }, "interventionEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei", "id": "CG-AC:AC1023/iei", "type": "EvidenceItem", "acceptabilityOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/aoi", "id": "CG-AC:AC1023/iei/aoi", "type": "EvidenceLine", "natureOfIntervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/noi/NOI2793", "id": "CG-AC:AC1023/iei/noi/NOI2793", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/NOI2793" } } ] }, "effectivenessOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/eoi", "id": "CG-AC:AC1023/iei/eoi", "type": "EvidenceLine", "patientManagement": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/pm/ACPM5341", "id": "CG-AC:AC1023/iei/pm/ACPM5341", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1023/tr/ACPM5341" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/pm/ACPM5339", "id": "CG-AC:AC1023/iei/pm/ACPM5339", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1023/tr/ACPM5339" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/pm/ACPM5343", "id": "CG-AC:AC1023/iei/pm/ACPM5343", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1023/tr/ACPM5343" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/pm/ACPM5340", "id": "CG-AC:AC1023/iei/pm/ACPM5340", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1023/tr/ACPM5340" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/pm/ACPM5342", "id": "CG-AC:AC1023/iei/pm/ACPM5342", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1023/tr/ACPM5342" } } ], "circumstanceToAvoid": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/cta/ACCA3265", "id": "CG-AC:AC1023/iei/cta/ACCA3265", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1023/tr/ACCA3265" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/cta/ACCA3264", "id": "CG-AC:AC1023/iei/cta/ACCA3264", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1023/tr/ACCA3264" } } ], "surveillance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/su/ACSU3576", "id": "CG-AC:AC1023/iei/su/ACSU3576", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC1023/tr/ACSU3576" } } ] }, "conditionEscapeDetection": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/ced", "id": "CG-AC:AC1023/iei/ced", "type": "EvidenceLine", "chanceToEscapeDetection": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023/iei/cted/CDEC2787", "id": "CG-AC:AC1023/iei/cted/CDEC2787", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC1023/ten/CDEC2787" } } ] } } }, "references": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF003127", "id": "CG-AC:RF003127", "type": "Publication", "publicationType": "PMID", "citation": "Gelb BD, Tartaglia M. Noonan Syndrome with Multiple Lentigines. (1993)", "webUrl": "https://www.ncbi.nlm.nih.gov/pubmed/?term=20301557", "xdbref": [ "PMID:20301557" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF003128", "id": "CG-AC:RF003128", "type": "Publication", "publicationType": "Orphanet", "citation": "Noonan syndrome with multiple lentigines. Orphanet encyclopedia [Internet]", "xdbref": [ "Orphanet:500" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/RF003129", "id": "CG-AC:RF003129", "type": "Publication", "publicationType": "OMIM", "citation": "Online Medelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. Leopard syndrome 1; lprd1. MIM: 1511002019 Aug 09. ", "webUrl": "https://www.omim.org/entry/151100", "xdbref": [ "OMIM:151100" ] } ] }