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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 |