Genomics England

COQ8A

coenzyme Q8A

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 4, OMIM:612016
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	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 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COENZYME Q10 DEFICIENCY 607426
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar Ataxia Type, Primary coenzyme Q10 deficiency 4, 612016, Coenzyme Q10 deficiency, primary 4, 612016
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016, COENZYME Q10 DEFICIENCY
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	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 Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	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 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 4, OMIM:612016
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type