1. Genes and Genomic Entities
  2. COX5A

COX5A

cytochrome c oxidase subunit 5A
OMIM: 603773, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green COX5A in Mitochondrial disorder with complex IV deficiency


Level 2: Mitochondrial
Version 4.14
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064
  • Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green COX5A in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064
    • Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
    Green COX5A in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064
    • Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
    Green COX5A in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064
    • Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520