NDUFA4

NDUFA4, mitochondrial complex associated
OMIM: 603833, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NDUFA4 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065
  • Leigh syndrome
  • Complex IV deficiency

Green NDUFA4 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
    • Leigh syndrome
    • Complex IV deficiency

    Red NDUFA4 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065
    • Leigh syndrome
    • Complex IV deficiency

    Red NDUFA4 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065