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  3. TUBA4A
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Bleeding and platelet disorders

Gene: TUBA4A

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TUBA4A (tubulin alpha 4a)
EnsemblGeneIds (GRCh38): ENSG00000127824
EnsemblGeneIds (GRCh37): ENSG00000127824
OMIM: 191110, Gene2Phenotype
TUBA4A is in 5 panels

1 review

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

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
Created: 11 May 2026, 12:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Macrothrombocytopenia

Publications

Created: 11 May 2026, 12:08 p.m.

Panel version: 4.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Macrothrombocytopenia
OMIM
191110
Clinvar variants
Variants in TUBA4A
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

11 May 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Carl Fratter (Oxford University Hospitals NHS Trust)

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