Genomics England
GMS Panels
Panels
Genes and Entities

ATP5E

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
OMIM: 606153
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053, mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053, mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547