Genomics England

coenzyme Q7, hydroxylase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402
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, primary, 8 616733
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Coenzyme Q10 deficiency, primary, 8 616733, complex multisystem presentation
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Coenzyme Q10 deficiency, primary, 8 616733