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| Bleeding and Platelet Disorders v1.11 | TUBA8 | Zornitza Stark Marked gene: TUBA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.11 | TUBA8 | Zornitza Stark Gene: tuba8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.11 | TUBA8 | Zornitza Stark Classified gene: TUBA8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.11 | TUBA8 | Zornitza Stark Gene: tuba8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.10 | TUBA8 |
Zornitza Stark gene: TUBA8 was added gene: TUBA8 was added to Bleeding and Platelet Disorders. Sources: Expert list 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 Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840 Review for gene: TUBA8 was set to AMBER Added comment: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic, one had menorrhagia. Sources: Expert list |
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