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| Cytopenia - NOT Fanconi anaemia v3.23 | TUBA8 | Achchuthan Shanmugasundram edited their review of gene: TUBA8: Changed publications to: 34704371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.23 | TUBA8 | Achchuthan Shanmugasundram commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.23 | TUBA8 | Achchuthan Shanmugasundram Classified gene: TUBA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.23 | TUBA8 | Achchuthan Shanmugasundram Gene: tuba8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.22 | TUBA8 | Achchuthan Shanmugasundram Phenotypes for gene: TUBA8 were changed from Macrothrombocytopenia, isolated, 2, autosomal dominant to Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.21 | TUBA8 | Achchuthan Shanmugasundram reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.20 | TUBA8 |
Hannah Knight 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 Added comment: PMID: 34704371 (2022) identified rare variants in this gene in patients with macrothrombocytopenia. Associated with a phenotype on OMIM Sources: Literature |
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