PanelApp
  1. Genes and Genomic Entities
  2. COQ5

COQ5

coenzyme Q5, methyltransferase
OMIM: 616359, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green COQ5 in Mendeliome


Version 1.3795

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary 9, MIM#619028

Green COQ5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.307

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary 9, MIM#619028

    Green COQ5 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1275

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 9 MIM#619028

    Green COQ5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 9 MIM#619028

    Green COQ5 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 9 MIM#619028