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Bleeding and platelet disorders v4.14 TUBA8 Achchuthan Shanmugasundram Classified gene: TUBA8 as Amber List (moderate evidence)
Bleeding and platelet disorders v4.14 TUBA8 Achchuthan Shanmugasundram Added comment: 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.
Bleeding and platelet disorders v4.14 TUBA8 Achchuthan Shanmugasundram Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v4.13 TUBA8 Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: OMIM phenotype last accessed on 13 May 2026; to: Comment on phenotypes: OMIM phenotype last accessed on 13 May 2026.
Bleeding and platelet disorders v4.13 TUBA8 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype last accessed on 13 May 2026
Bleeding and platelet disorders v4.13 TUBA8 Achchuthan Shanmugasundram Phenotypes for gene: TUBA8 were changed from to Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840; macrothrombocytopenia, isolated, 2, autosomal dominant, MONDO:0030827
Bleeding and platelet disorders v4.12 TUBA8 Achchuthan Shanmugasundram Publications for gene: TUBA8 were set to PMID: 34662886)
Bleeding and platelet disorders v4.11 TUBA8 Achchuthan Shanmugasundram reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840, macrothrombocytopenia, isolated, 2, autosomal dominant, MONDO:0030827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v4.6 TUBA8 Carl Fratter reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34662886, 34704371; Phenotypes: Macrothrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v4.6 TUBA8 Carl Fratter 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