1. Genes and Genomic Entities
  2. COX8A

COX8A

cytochrome c oxidase subunit 8A
OMIM: 123870, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber COX8A 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 Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Red COX8A in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Mitochondrial complex IV deficiency 220110
Red COX8A in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.103
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
    • Expert Review Red
    Phenotypes
    • ?Mitochondrial complex IV deficiency 220110
    Amber COX8A in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Mitochondrial complex IV deficiency, 220110
    Red COX8A in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Expert list
    Phenotypes
    • ?Mitochondrial complex IV deficiency 220110