Cytopenia - NOT Fanconi anaemia
Gene: TUBA8
Six unrelated individuals were identified with TUBA8 missense variants in a large cohort of blood donors with mild thrombocytopenia and these individuals were generally asymptomatic and one had menorrhagia. There is also some functional data available.Created: 1 Mar 2024, 3:04 p.m. | Last Modified: 1 Mar 2024, 3:04 p.m.
Panel Version: 3.23
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840
Publications
PMID: 34704371 (2022) identified rare variants in this gene in patients with macrothrombocytopenia. Associated with a phenotype on OMIM
Sources: LiteratureCreated: 22 Nov 2023, 3:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopenia, isolated, 2, autosomal dominant
Publications
Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TUBA8 were changed from Macrothrombocytopenia, isolated, 2, autosomal dominant to Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840
gene: TUBA8 was added gene: TUBA8 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: TUBA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA8 were set to 34704371 Phenotypes for gene: TUBA8 were set to Macrothrombocytopenia, isolated, 2, autosomal dominant Review for gene: TUBA8 was set to AMBER