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Hereditary ataxia with onset in adulthood v1.9 | TSEN2 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2B, 612389 for gene: TSEN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | TSEN2 | Louise Daugherty reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | TSEN2 | Tracy Lester reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | TSEN2 | Louise Daugherty Source NHS GMS was added to TSEN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | TSEN2 | Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.49 | TSEN2 | Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.2 | TSEN2 |
Eleanor Williams gene: TSEN2 was added gene: TSEN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389) |