COQ5

coenzyme Q5, methyltransferase
OMIM: 616359, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber COQ5 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 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 Expert Review Amber Literature Phenotypes ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028 mitochondrial disease, MONDO:0044970
Amber COQ5 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028 mitochondrial disease, MONDO:0044970 Tags Q2_26_promote_green
Red COQ5 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 DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION
Amber COQ5 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.73 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 Expert Review Amber Literature Phenotypes ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028 mitochondrial disease, MONDO:0044970
Amber COQ5 in Intellectual disability Level 2: Developmental disorders Version 11.26 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 Expert Review Amber Victorian Clinical Genetics Services Phenotypes ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028 mitochondrial disease, MONDO:0044970 Tags Q2_26_promote_green
Amber COQ5 in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028 mitochondrial disease, MONDO:0044970 Tags Q2_26_promote_green
Amber COQ5 in Retinal disorders Level 2: Ophthalmology Version 9.19 Latest signed off version: v9.14 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028 coenzyme q10 deficiency, primary, 9, MONDO:0033615 Tags Q2_26_promote_green