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Hereditary ataxia with onset in adulthood v1.14 | TTBK2 | Louise Daugherty commented on gene: TTBK2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | TTBK2 | Louise Daugherty Source London North GMS was added to TTBK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | TTBK2 | James Polke reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | TTBK2 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 11, 604432 for gene: TTBK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TTBK2 | Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TTBK2 | Tracy Lester reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11, 604432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TTBK2 | Louise Daugherty Source NHS GMS was added to TTBK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TTBK2 | Louise Daugherty Source Wessex and West Midlands GLH was added to TTBK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.2 | TTBK2 |
Eleanor Williams gene: TTBK2 was added gene: TTBK2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11 |