Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.11 | TUBA4A | Achchuthan Shanmugasundram Classified gene: TUBA4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.11 | TUBA4A | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Carl Fratter, there is only one published human case of macrothrombocytopenia and functional evidence from mouse model reported in association with variants in TUBA4A gene. This gene has been classified with 'Limited' rating by the Hemostasis Thrombosis expert panel in ClinGen. This gene can therefore be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.11 | TUBA4A | Achchuthan Shanmugasundram Gene: tuba4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.10 | TUBA4A | Achchuthan Shanmugasundram Publications for gene: TUBA4A were set to PMID: 30760556; 36026602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||