COQ6

coenzyme Q6, monooxygenase
OMIM: 614647, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green COQ6 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.113 Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Eligibility statement prior genetic testing Phenotypes Coenzyme Q10 deficiency, primary, 6 614650
Green COQ6 in Unexplained paediatric onset end-stage renal disease Version 1.37 Latest signed off version: v1.2 (4 Mar 2020) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 6 614650
Green COQ6 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.542	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Steroid-resistant nephrotic syndrome Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 6, 614650
Green COQ6 in Inborn errors of metabolism Version 2.263 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 COQ6 in Possible mitochondrial disorder - nuclear genes Version 1.94 Latest signed off version: v1.17 (11 Nov 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650
Amber COQ6 in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.563 Latest signed off version: v2.2 (13 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650
Green COQ6 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.117 Latest signed off version: v2.4 (17 Feb 2020) Component of the following Super Panels: White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Steroid-resistant nephrotic syndrome Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 6, 614650
Green COQ6 in Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 2.77 Latest signed off version: v2.32 (16 Oct 2020) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Coenzyme Q10 deficiency, primary, 6 #614650
Red COQ6 in Childhood onset dystonia or chorea or related movement disorder Version 1.241 Latest signed off version: v1.137 (5 Aug 2021)	review	Not set	Sources Expert Review Red London North GLH
Green COQ6 in Severe Paediatric Disorders Version 1.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650