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Hereditary ataxia with onset in adulthood v1.9 COX20 Louise Daugherty Added phenotypes Mitochondrial complex IV deficiency for gene: COX20
Hereditary ataxia with onset in adulthood v1.8 COX20 Louise Daugherty reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 COX20 Tracy Lester reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 COX20 Louise Daugherty Source NHS GMS was added to COX20.
Hereditary ataxia with onset in adulthood v1.1 COX20 Louise Daugherty Source Wessex and West Midlands GLH was added to COX20.
Hereditary ataxia with onset in adulthood v0.72 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Hereditary ataxia with onset in adulthood v0.2 COX20 Eleanor Williams gene: COX20 was added
gene: COX20 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal