COQ4

coenzyme Q4
OMIM: 612898, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green COQ4 in Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.48 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green COQ4 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags treatable
Green COQ4 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green COQ4 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green COQ4 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green COQ4 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 7, 616276
Green COQ4 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7
Green COQ4 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276
Green COQ4 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 7 616276
Green COQ4 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7
Green COQ4 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green COQ4 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Red COQ4 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562
Red COQ4 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green COQ4 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 7, 616276
Green COQ4 in Acute rhabdomyolysis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.18 Latest signed off version: v1.7 (31 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Rhabdomyolysis Coenzyme Q10 deficiency, primary, 7, OMIM:616276