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Hereditary ataxia with onset in adulthood v1.9 COQ8A Louise Daugherty Added phenotypes Primary coenzyme Q10 deficiency 4, 612016 for gene: COQ8A
Hereditary ataxia with onset in adulthood v1.8 COQ8A Louise Daugherty reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 COQ8A Tracy Lester reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary coenzyme Q10 deficiency 4, 612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 COQ8A Louise Daugherty Source NHS GMS was added to COQ8A.
Hereditary ataxia with onset in adulthood v1.1 COQ8A Louise Daugherty Source Wessex and West Midlands GLH was added to COQ8A.
Hereditary ataxia with onset in adulthood v0.74 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia with onset in adulthood v0.73 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia with onset in adulthood v0.2 COQ8A Eleanor Williams gene: COQ8A was added
gene: COQ8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type