COX6A1

cytochrome c oxidase subunit 6A1
OMIM: 602072, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green COX6A1 in Mitochondrial disorder with complex IV deficiency


Version 1.8
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039

Green COX6A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039

Green COX6A1 in Inborn errors of metabolism


Version 2.50
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
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate D, 616039

    Green COX6A1 in Possible mitochondrial disorder - nuclear genes


    Version 1.31
    Signed off v.1.17 on 11 Nov 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate D, 616039

    Green COX6A1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Charcot Marie Tooth disease, recessive intermediate D, 616039

    Green COX6A1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.14
    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
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate D, 616039

    Red COX6A1 in Cardiomyopathies - including childhood onset


    Version 1.18
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate D, 616039

    Green COX6A1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot Marie Tooth disease, recessive intermediate D, 616039

    Red COX6A1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

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

    Green COX6A1 in Severe Paediatric Disorders


    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate D, 616039