RPL35 Gene Curation
- Katherine Lafferty
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | Diamond-Blackfan anemia 19 |
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Inheritance | Autosomal dominant |
Prevalence | Overall incidence of Diamond-Blackfan 5-7 per million |
Rapid or full curation? | Rapid Full |
Not in ClinGen GenCC- AD Diamond-Blackfan anemia 19 (Limited- PanelApp Australia and Invitae) OMIM- AD ?Diamond-Blackfan anemia 19 | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: PMID 28280134- c.231G>C (p.Lys77Asn) variant found in parent and child with DBA. Patient cells were used with p.Lys77Asn showed pre-rRNA processing defects (0.5+0.5 = 1 pt) PMID 30503522- Another report of the p.Lys77Asn variant in two individuals with DBA (unclear is these two are unrelated). These individuals also carry a deletion of RPS19 which is also associated with DBA and MOD is LOF for that gene. Given this potential for an alternative explanation, no points given. 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 (with possibly some evidence against association) 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) |
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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