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 - narrow panel Level 2: Neurology Version 8.76 Latest signed off version: v8.0 (30 Apr 2025) 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 4.27 Latest signed off version: v4.0 (30 Apr 2025)	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 6.447 Latest signed off version: v6.0 (30 Apr 2025) 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 8.173 Latest signed off version: v8.0 (30 Apr 2025) 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 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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 9.51 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	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 8.116 Latest signed off version: v8.0 (30 Apr 2025)	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