Genomics England

coenzyme Q6, monooxygenase

Panel	Mode of inheritance	Details
Filter panels4 panels
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650, Steroid-resistant nephrotic syndrome, Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of ubiquinone metabolism and biosynthesis
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Steroid-resistant nephrotic syndrome, Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 6, 614650
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650
Green in Proteinuric renal disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R195 Signed-off version 4.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 6 #614650