COQ7

coenzyme Q7, hydroxylase
OMIM: 601683, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green COQ7 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 616733

Green COQ7 in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Coenzyme Q10 deficiency, primary, 8 616733

    Green COQ7 in Possible mitochondrial disorder - nuclear genes


    Version 1.94
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Coenzyme Q10 deficiency, primary, 8 616733

    Green COQ7 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    • Expert list
    Phenotypes
    • ?Coenzyme Q10 deficiency, primary, 8 616733
    • complex multisystem presentation

    Red COQ7 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.77
    Latest signed off version: v2.32 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • ?Coenzyme Q10 deficiency, primary, 8 #616733

    Amber COQ7 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Coenzyme Q10 deficiency, primary, 8, 616733