PanelApp (stage)
  1. Genes and Genomic Entities
  2. COQ6

COQ6

coenzyme Q6, monooxygenase
OMIM: 614647, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green COQ6 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6 MIM#614650

Green COQ6 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.225

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber COQ6 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 6, MIM#614650

    Green COQ6 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Green COQ6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green COQ6 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 6, 614650 (3)

    Red COQ6 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Nephrotic syndrome with sensorineural deafness

    Green COQ6 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 6, 614650 (3)

    Green COQ6 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BeginNGS
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 6, MIM# 614650
    Tags
    • treatable
    • metabolic