PanelApp
  1. Genes and Genomic Entities
  2. COA6

COA6

cytochrome c oxidase assembly factor 6
OMIM: 614772, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green COA6 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501
  • Cardioencephalomyopathy, fatal infantile, MONDO:0014668

Green COA6 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501
    • Cardioencephalomyopathy, fatal infantile, MONDO:0014668

    Green COA6 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501