COQ8A

coenzyme Q8A
OMIM: 606980, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green COQ8A in White matter disorders and cerebral calcification - narrow panel


Version 1.190
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Coenzyme Q10 deficiency, primary 4, 612016
    • Spinocerebellar Ataxia Type

    Green COQ8A in Ataxia and cerebellar anomalies - narrow panel


    Version 2.226
    Latest signed off version: v2.23 (8 Oct 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Coenzyme Q10 deficiency, primary 4, 612016
    • Spinocerebellar Ataxia Type

    Green COQ8A in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.235

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Coenzyme Q10 deficiency, primary 4, 612016
    • Spinocerebellar Ataxia Type

    Green COQ8A in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.130

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary 4, 612016
    • Spinocerebellar Ataxia Type

    Red COQ8A in Neurodegenerative disorders - adult onset


    Version 2.179
    Latest signed off version: v2.178 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Coenzyme Q10 deficiency, primary 4, 612016
    • Spinocerebellar Ataxia Type

    Green COQ8A in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.477

    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, 4, 612016
    • Coenzyme Q10 deficiency

    Green COQ8A in Inborn errors of metabolism


    Version 2.171
    Latest signed off version: v2.3 (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
    • 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, 4, 612016

    Green COQ8A in Possible mitochondrial disorder - nuclear genes


    Version 1.50
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 4, 612016

    Red COQ8A in Fetal anomalies


    Version 1.701
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Coenzyme Q10 deficiency, primary 4, 612016

    Green COQ8A in DDG2P


    Version 2.41
    Latest signed off version: v2.2 (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

    Red COQ8A in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.391

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies

    Green COQ8A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1216
    Latest signed off version: v3.2 (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 Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 4, 612016
    • COENZYME Q10 DEFICIENCY

    Green COQ8A in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.48
    Latest signed off version: v2.4 (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, 4, 612016
    • Coenzyme Q10 deficiency

    Green COQ8A in Hereditary ataxia - adult onset


    Version 2.81
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar Ataxia Type
    • Primary coenzyme Q10 deficiency 4, 612016
    • Coenzyme Q10 deficiency, primary 4, 612016

    Red COQ8A in Hereditary neuropathy NOT PMP22 copy number


    Version 1.37
    Latest signed off version: v1.36 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hereditary Neuropathies

    Red COQ8A in Childhood onset dystonia or chorea or related movement disorder


    Version 1.140
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green COQ8A in Severe Paediatric Disorders


    Version 1.81

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 4, 612016