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Hereditary ataxia with onset in adulthood v3.6 TUBB2B Arina Puzriakova Phenotypes for gene: TUBB2B were changed from Complex cortical dysplasia with other brain abnormalities 7, 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Hereditary ataxia with onset in adulthood v1.79 TUBB2B Louise Daugherty Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.78 TUBB2B Louise Daugherty Mode of pathogenicity for gene: TUBB2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary ataxia with onset in adulthood v1.77 TUBB2B Louise Daugherty Classified gene: TUBB2B as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.77 TUBB2B Louise Daugherty Gene: tubb2b has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.9 TUBB2B Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain abnormalities 7, 610031 for gene: TUBB2B
Hereditary ataxia with onset in adulthood v1.8 TUBB2B Louise Daugherty reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 TUBB2B Tracy Lester reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Complex cortical dysplasia with other brain abnormalities 7, 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.2 TUBB2B Louise Daugherty Source NHS GMS was added to TUBB2B.
Hereditary ataxia with onset in adulthood v1.1 TUBB2B Louise Daugherty gene: TUBB2B was added
gene: TUBB2B was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TUBB2B was set to