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  1. Genes and Genomic Entities
  2. ATP5F1E

ATP5F1E

ATP synthase F1 subunit epsilon
OMIM: 606153, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ATP5F1E in Mendeliome


Version 2.10

2 reviews 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 ATP5F1E in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053

    Green ATP5F1E in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 2.0

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews 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 ATP5F1E in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    		1 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