PanelApp (stage)
  1. Genes and Genomic Entities
  2. NDUFA6

NDUFA6

NADH:ubiquinone oxidoreductase subunit A6
OMIM: 602138, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NDUFA6 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253

Red NDUFA6 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 33, MIM#618253

    Green NDUFA6 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
    • Expert list
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253

    Red NDUFA6 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 33, 618253