COA5

cytochrome c oxidase assembly factor 5
OMIM: 613920, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red COA5 in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.41
Latest signed off version: v2.11 (15 Oct 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM

    Amber COA5 in Mitochondrial disorder with complex IV deficiency


    Version 1.16
    Latest signed off version: v1.2 (17 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500

    Red COA5 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500

    Red COA5 in Inborn errors of metabolism


    Version 2.263
    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
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500

    Amber COA5 in Possible mitochondrial disorder - nuclear genes


    Version 1.94
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500

    Red COA5 in DDG2P


    Version 2.78
    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 Red
    Phenotypes
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110

    Red COA5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    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 Red
    • Expert Review Red
    Phenotypes
    • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY

    Red COA5 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    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
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500

    Green COA5 in Cardiomyopathies - including childhood onset


    Version 1.77
    Latest signed off version: v1.4 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • Isolated complex IV deficiency
    • Mitochondrial complex IV deficiency, 220110
    • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
    • syndromic HCM
    • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3