RFWD3 Gene Curation
- Katherine Lafferty
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | Fanconi anemia, complementation group W |
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Inheritance | Autosomal recessive |
Prevalence | 1:160,000 (frequency for all Fanconi anemia) |
Rapid or full curation? | Rapid Full |
Not in ClinGen (In Scope for CAYA GCEP) GenCC- Fanconi anemia, complementation group W (Invitae- Limited) OMIM- ?Fanconi anemia, complementation group W AR | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: PMID 28691929- Individual with FA found to be compound heterozygote for c.205_206dup (2 pts) and c.1916T>A (0.5pts); Pt cells showed increased chromosome breakage and other features of FA (1pt) (3.5 pts) PMID 38058754- Individual with FA homozygous for c.1501C>T, consanguineous parents (0.5pts) 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 |
Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function / Gain of function / Dominant Negative
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Penetrance Complete (100%) High (≥80%) Moderate (<80% and >20%) Low (≤20%) (list source/PMID) | Limited 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 |
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