ATP5E

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
OMIM: 606153, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ATP5E in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Tags
  • new gene name

Amber ATP5E 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 Amber
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053

    Green ATP5E 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
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
    Tags
    • new gene name

    Amber ATP5E in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
    Tags
    • new gene name