COQ2

coenzyme Q2, polyprenyltransferase
OMIM: 609825, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red COQ2 in Familial dysautonomia


Version 1.8

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Multiple system atrophy, susceptibility to, 146500

Green COQ2 in White matter disorders and cerebral calcification - narrow panel


Version 1.14
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Mitochondrial Leukoencephalopathy
    • Coenzyme Q10 deficiency, primary, 1

    Red COQ2 in Diabetes - neonatal onset

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 2.3
    Signed off v.2.2 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency

    Green COQ2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.71

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1
    • Mitochondrial Leukoencephalopathy
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green COQ2 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.89

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Eligibility statement prior genetic testing
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1 607426

    Green COQ2 in Unexplained paediatric onset end-stage renal disease


    Version 1.10
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1 301050

    Amber COQ2 in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Amber
    Phenotypes
    • Multiple system atrophy, susceptibility to, 146500

    Green COQ2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.414

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of ubiquinone metabolism and biosynthesis
    • Coenzyme Q10 deficiency, primary, 1, 607426
    • Coenzyme Q10 deficiency
    • {Multiple system atrophy, susceptibility to}, 146500

    Green COQ2 in Inborn errors of metabolism


    Version 2.8
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • {Multiple system atrophy, susceptibility to}, 146500
    • Coenzyme Q10 deficiency
    • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of ubiquinone metabolism and biosynthesis
    • Coenzyme Q10 deficiency, primary, 1, 607426

    Green COQ2 in Possible mitochondrial disorder - nuclear genes


    Version 1.15
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1, 607426

    Red COQ2 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • COENZYME Q10 DEFICIENCY

    Green COQ2 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • COENZYME Q10 DEFICIENCY 607426

    Green COQ2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.69
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1 607426

    Red COQ2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    Signed off v.3.2 on 13 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 Red
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1 607426
    • {Multiple system atrophy, susceptibility to} 146500

    Green COQ2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of ubiquinone metabolism and biosynthesis
    • Coenzyme Q10 deficiency, primary, 1, 607426
    • Coenzyme Q10 deficiency
    • {Multiple system atrophy, susceptibility to}, 146500

    Green COQ2 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.23
    Signed off v.2.4 on 13 Feb 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1 #607426

    Red COQ2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green COQ2 in Kidneyome_SuperPanel_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.2

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

    Green COQ2 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 1, 607426