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| Bleeding and platelet disorders v4.6 | TUBA4A |
Carl Fratter gene: TUBA4A was added gene: TUBA4A was added to Bleeding and platelet disorders. Sources: NHS GMS Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBA4A were set to PMID: 30760556; 36026602 Phenotypes for gene: TUBA4A were set to Macrothrombocytopenia Penetrance for gene: TUBA4A were set to unknown Review for gene: TUBA4A was set to AMBER Added comment: Reviewed by regional haemostasis genomics MDT and propose amber rating. ClinGen Gene-Disease Validity for association with AD macrothrombocytopenia has been classified as “limited”. PMID: 30760556 – heterozygous double missense variant detected in an individual with mild macrothrombocytopenia and tubulin disorganisation in platelets; evidence for TUBA4A association with macrothrombocytopenia supported by mouse model (different variant) and other functional work demonstrating that alpha4A-tubulin is the predominant alpha-tubulin in platelets and is essential for platelet biogenesis. PMID: 36026602 – further work in mice demonstrating importance of alpha4A-tubulin in platelets. Vincenot et al. 2024 report 2 further families in a meeting abstract but not yet published in a peer review journal. Sources: NHS GMS |
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