Bleeding and platelet disorders
Gene: TUBA8EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 14 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Carl Fratter, PMID:34662886 (2021) reported UK Biobank cohort study, of which one variant was reported in TUBA8 gene as associated with increased platelet distribution width (but no association reported with platelet count).
PMID:34704371 (2022) reported the identification of six distinct heterozygous variants in six unrelated individuals from a large cohort of French blood donors with mild thrombocytopenia. The individuals were generally asymptomatic and one had menorrhagia. There is also some functional data.
As these reported individuals are from large cohorts and they are mostly asymptomatic, this can only be rated amber with current evidence.Created: 13 May 2026, 3:39 p.m. | Last Modified: 13 May 2026, 3:39 p.m.
Panel Version: 4.14
Comment on phenotypes: OMIM phenotype last accessed on 13 May 2026.Created: 13 May 2026, 3:25 p.m. | Last Modified: 13 May 2026, 3:25 p.m.
Panel Version: 4.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840; macrothrombocytopenia, isolated, 2, autosomal dominant, MONDO:0030827
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
-
- Expert Review Amber
- Phenotypes
-
- Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840
- macrothrombocytopenia, isolated, 2, autosomal dominant, MONDO:0030827
- OMIM
- 605742
- Clinvar variants
- Variants in TUBA8
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Malformations of cortical development
- Cerebellar hypoplasia
- Cytopenia - NOT Fanconi anaemia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Cerebral vascular malformations
- Bleeding and platelet disorders
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Early onset or syndromic epilepsy
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TUBA8 were changed from to Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840; macrothrombocytopenia, isolated, 2, autosomal dominant, MONDO:0030827
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: TUBA8 were set to PMID: 34662886)
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