Activity
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7 actions
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| Hereditary ataxia with onset in adulthood v1.9 | GLRA1 | Louise Daugherty Added phenotypes Hyperekplexia 1, 149400 for gene: GLRA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | GLRA1 | Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | GLRA1 | Tracy Lester reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | GLRA1 | Louise Daugherty Source NHS GMS was added to GLRA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | GLRA1 | Louise Daugherty Source Wessex and West Midlands GLH was added to GLRA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.63 | GLRA1 | Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | GLRA1 |
Eleanor Williams gene: GLRA1 was added gene: GLRA1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 20301437 Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1 |
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