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Hereditary ataxia with onset in adulthood v1.9 | ZNF592 | Louise Daugherty Added phenotypes Galloway-Mowat Syndrome 1, 251300 for gene: ZNF592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | ZNF592 | Louise Daugherty reviewed gene: ZNF592: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | ZNF592 | Tracy Lester reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Galloway-Mowat Syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | ZNF592 | Louise Daugherty Source NHS GMS was added to ZNF592. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | ZNF592 | Louise Daugherty Source Wessex and West Midlands GLH was added to ZNF592. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.2 | ZNF592 |
Eleanor Williams gene: ZNF592 was added gene: ZNF592 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5 |