UIMC1 Gene Curation
- Andrea Oza
Analytics
Gene-disease assertions not curated here (add link or write note): autism, neurodevelopmental disorder breast/ovariant cancer, COVID-19 susceptibility (DM? in HGMD)
Disease |
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|---|---|
Inheritance | Autosomal recessive / autosomal dominant / X-linked |
Prevalence |
Source: |
Rapid or full curation? | Rapid Full |
ClinGen - no GCEP curations, no evidence for haploinsufficiency/triplosensitivity GenCC - no curations OMIM - no conditions HGMD - 25 variants, all DM?, autism, neurodevelopmental disorder breast/ovariant cancer, COVID-19 susceptibility. Did not evaluate further. | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: Segregation Evidence: Case/Control Evidence: Experimental Evidence: 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 | Limited Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function / Gain of function / Dominant Negative
|
Penetrance Complete (100%) High (≥90%) Reduced (<90% and >10%) Low (≤10%) (list source/PMID) |
Source: |
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID) |
|
Severity |
|
Clinical Features |
Sources: |
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 | Andrea Oza, 06/14/2023 |