1. Genes and Genomic Entities
  2. COQ5

COQ5

coenzyme Q5, methyltransferase
OMIM: 616359, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber COQ5 in Possible mitochondrial disorder - nuclear genes


Version 3.106
Latest signed off version: v3.105 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Red COQ5 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Red COQ5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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 Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    • cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency
    Red COQ5 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • No OMIM phenotype
    Amber COQ5 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    		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