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 2.0

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 2.0

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

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 2.0

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