COQ2

coenzyme Q2, polyprenyltransferase
OMIM: 609825, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green COQ2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, MIM# 607426
  • MONDO:0011829

Green COQ2 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
    • Victorian Clinical Genetics Services

    Green COQ2 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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1, MIM# 607426
    • MONDO:0011829

    Green COQ2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1, MIM# 607426
    • MONDO:0011829

    Green COQ2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

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

    Amber COQ2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1, MIM#607426

    Green COQ2 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Mitochondrial Leukoencephalopathy
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Coenzyme Q10 deficiency, primary, 1

    Green COQ2 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.134

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • coenzyme Q10 deficiency, primary, 1 MONDO:0011829

    Green COQ2 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, 1, 607426 (3)

    Red COQ2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1

    Red COQ2 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1, MIM#607426

    Green COQ2 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, 1, 607426 (3)

    Green COQ2 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, 1, MIM# 607426
    Tags
    • treatable
    • metabolic