HERC2 Gene Curation
- Andrea Oza
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | developmental delay with autism spectrum disorder and gait instability |
|---|---|
Inheritance | Autosomal recessive |
Prevalence | <1 / 1 000 000 Source: ORPHANET |
Rapid or full curation? | Rapid - curating for mol mech only Full |
ClinGen - none; GenCC Strong (Invitae), Moderate (Ambry). | |
Clinical Validity Scoring Notes and points | Not necessary, strong/moderate curations in GenCC. Source: |
Clinical Validity Points Total |
Source: |
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed |
Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function
PMID: 34370298
Sources: 34370298, 26077850, 32571899 |
Penetrance Complete (100%) High (≥80%) Moderate (<80% and >20%) Low (≤20%) (list source/PMID) |
Source: |
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID) |
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Severity |
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Clinical Features |
Sources: |
HPO Terms |
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Gene SOPs & Notes | LINK if SOP is a long document. Short notes if it is easy to digest. eg. Last known truncating variant |
Curation Summary |
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Case ID, Curator name, Date, Jira ticket link | AO, E3850510438, 02/04/25 |