1. Genes and Genomic Entities
  2. COX6A2

COX6A2

cytochrome c oxidase subunit 6A2
OMIM: 602009, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green COX6A2 in Congenital myopathy


Level 2: Neurology
Version 7.80
Latest signed off version: v7.77 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
    Green COX6A2 in Mitochondrial disorder with complex IV deficiency


    Level 2: Mitochondrial
    Version 5.5
    Latest signed off version: v5.4 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
    Green COX6A2 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.32
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
    Green COX6A2 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.25
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
    Green COX6A2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.25
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062