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| Hereditary ataxia with onset in adulthood v1.9 | GOSR2 | Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 6, 614018 for gene: GOSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | GOSR2 | Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | GOSR2 | Tracy Lester reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | GOSR2 | Louise Daugherty Source NHS GMS was added to GOSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | GOSR2 | Louise Daugherty Source Wessex and West Midlands GLH was added to GOSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | GOSR2 |
Eleanor Williams gene: GOSR2 was added gene: GOSR2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOSR2 were set to 24285620; 20301317; 21549339 Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 |
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