RPS28 Gene Curation
- Katherine Lafferty
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
|---|---|
Inheritance | Autosomal dominant |
Prevalence | Overall incidence of Diamond-Blackfan 5-7 per million Source: Diamond-Blackfan anemia: MedlinePlus Genetics
|
Rapid or full curation? | Rapid Full |
Not in ClinGen- In Scope for CAYA GCEP GenCC- AD Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (Moderate- PanelApp Australia; Limited- Invitae) OMIM- AD Diamond Blackfan anemia 15 with mandibulofacial dysostosis | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: PMID 24942156- c.1A>G p.Met1? was seen de novo in two unrelated individuals with features of DBA and facial features suggestive of Treacher Collins syndrome (2.5 + 2.5 = 5pts) PMID 35295078 c.2T>C p.Met1? found in once individual with diagnosis of Inherited bone marrow failure syndrome (2 pts) 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 | Moderate (at least, stopped once got to this score) Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function / Gain of function / Dominant Negative Seems to be recurrent variants of p.Met1? |
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) |
|
Severity |
|
Clinical Features |
Sources: |
HPO Terms |
|
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 |
|
Case ID, Curator name, Date, Jira ticket link |
|