Activity
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8 actions
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| Hereditary ataxia with onset in adulthood v1.9 | CAMTA1 | Louise Daugherty Added phenotypes Cerebellar ataxia with mental retardation, 614756 for gene: CAMTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | CAMTA1 | Louise Daugherty reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | CAMTA1 | Tracy Lester reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | CAMTA1 | Louise Daugherty Source NHS GMS was added to CAMTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | CAMTA1 | Louise Daugherty Source Wessex and West Midlands GLH was added to CAMTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.79 | CAMTA1 | Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.78 | CAMTA1 | Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | CAMTA1 |
Eleanor Williams gene: CAMTA1 was added gene: CAMTA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 |
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