1. Genes and Genomic Entities
  2. COA3

COA3

cytochrome c oxidase assembly factor 3
OMIM: 614775, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber COA3 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 Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Amber COA3 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 Amber
    Phenotypes
    • Ostergaard et al., 2015, J. Med. Genet., 52, 203-207.
    Amber COA3 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 Amber
    • NHS GMS
    Phenotypes
    • No OMIM phenotype
    Red COA3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Red COA3 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 Red
    • Victorian Clinical Genetics Services
    • Expert Review
    • Literature
    Red COA3 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

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