PanelApp
  1. Genes and Genomic Entities
  2. COQ9

COQ9

coenzyme Q9
OMIM: 612837, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green COQ9 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, MIM#614654

Green COQ9 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 5, MIM#614654

    Green COQ9 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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

    Green COQ9 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber COQ9 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 5, MIM#614654

    Red COQ9 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 5 614654

    Red COQ9 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.152

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840

    Green COQ9 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 5, MIM# 614654
    • dev delay
    • hypothermia
    • seizures, cardiomyopathy
    • left ventricular noncompaction
    • truncal hypotonia
    • peripheral hypotonia
    • brain MRI abnormalities
    • microcephaly

    Green COQ9 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 5, MIM#614654

    Red COQ9 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 5 , MIM#614654
    Tags
    • for review