PanelApp (test)
  1. Genes and Genomic Entities
  2. COX6A1

COX6A1

cytochrome c oxidase subunit 6A1
OMIM: 602072, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green COX6A1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039
  • MONDO:0014467

Green COX6A1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039
    • MONDO:0014467

    Green COX6A1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot Marie Tooth disease, recessive intermediate D, 616039
    • MONDO:0014467
    • HMSN

    Red COX6A1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate D, 616039