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COQ4

coenzyme Q4
OMIM: 612898, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green COQ4 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 6.9 Latest signed off version: v6.8 (12 Aug 2026) 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 - childhood onset Level 2: Neurology Version 9.26 Latest signed off version: v9.22 (12 Aug 2026) 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 Hereditary spastic paraplegia, adult onset Level 2: Neurology Version 6.14 Latest signed off version: v6.13 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	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 1.645	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 Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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 Level 2: Mitochondrial Version 5.18 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 7, 616276
Green COQ4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.4 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7
Green COQ4 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) 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 2: Neurology Version 9.68 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders 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 Level 2: Developmental disorders Version 11.13 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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 2: Mitochondrial Version 10.19 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	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, adult onset Level 2: Neurology Version 9.5 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	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 2: Ophthalmology Version 9.19 Latest signed off version: v9.14 (12 Aug 2026)	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 Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH
Green COQ4 in Acute rhabdomyolysis Level 2: Neurology Version 3.1 Latest signed off version: v3.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Rhabdomyolysis Coenzyme Q10 deficiency, primary, 7, OMIM:616276