Bleeding and platelet disorders
Gene: TUBA8
TUBA8 (tubulin alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 14 panels
1 review
Carl Fratter (Oxford University Hospitals NHS Trust)
Reviewed by regional haemostasis MDT and propose amber rating; insufficient evidence of Mendelian inheritance.
PMID: 34704371 – cohort of 448 French blood donors with mild thrombocytopenia; 6 unrelated individuals found to have 6 different heterozygous missense variants; no segregation studies; platelets available from individuals 3, 4, and 5 showed an abnormal round shape and severe disorganization of microtubules and the marginal band (MPV also high in these 3 individuals; no data for the other 3). In vitro functional studies showed that the mutations variably inhibited the incorporation of TUBA8 into the microtubule network.
PMID: 34662886 – UK Biobank cohort study; one variant reported as associated with increased MPV and PDW (but no association reported with platelet count); detected in 22 individuals in the Biobank cohort.Created: 11 May 2026, 12:12 p.m. | Last Modified: 11 May 2026, 12:12 p.m.
Panel Version: 4.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Macrothrombocytopenia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- OMIM
- 605742
- Clinvar variants
- Variants in TUBA8
- Penetrance
- unknown
- Publications
-
- PMID: 34662886)
- Panels with this gene
-
- Cerebellar hypoplasia
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- DDG2P
- Cerebral vascular malformations
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Malformations of cortical development
- Inherited white matter disorders
- Fetal anomalies
- Cytopenia - NOT Fanconi anaemia
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
11 May 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
Carl Fratter (Oxford University Hospitals NHS Trust)gene: TUBA8 was added gene: TUBA8 was added to Bleeding and platelet disorders. Sources: NHS GMS Mode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBA8 were set to PMID: 34662886) Penetrance for gene: TUBA8 were set to unknown