PanelApp (staging)
  1. Genes and Genomic Entities
  2. COA5

COA5

cytochrome c oxidase assembly factor 5
OMIM: 613920, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red COA5 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500

Red COA5 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500

    Red COA5 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500

    Red COA5 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • South West GLH
    • NHS GMS
    Phenotypes
    • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500