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| Hereditary ataxia with onset in adulthood v1.76 | TUBB3 | Louise Daugherty Mode of pathogenicity for gene: TUBB3 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 v1.75 | TUBB3 | Louise Daugherty Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.74 | TUBB3 | Louise Daugherty Classified gene: TUBB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.74 | TUBB3 | Louise Daugherty Gene: tubb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | TUBB3 | Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain abnormalities 1, 614039 for gene: TUBB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | TUBB3 | Louise Daugherty reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | TUBB3 | Tracy Lester reviewed gene: TUBB3: 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 1, 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | TUBB3 | Louise Daugherty Source NHS GMS was added to TUBB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | TUBB3 |
Louise Daugherty gene: TUBB3 was added gene: TUBB3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBB3 was set to |
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