Genomics England

COQ8A

coenzyme Q8A

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 2.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COENZYME Q10 DEFICIENCY 607426
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 2.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar Ataxia Type, Primary coenzyme Q10 deficiency 4, 612016, Coenzyme Q10 deficiency, primary 4, 612016
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 4, 612016
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016, COENZYME Q10 DEFICIENCY
Green in Mitochondrial disorders Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 4, 612016, Coenzyme Q10 deficiency
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 1.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 1.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type