Genomics England
GMS Panels
Panels
Genes and Entities

MT-ATP8

mitochondrially encoded ATP synthase 8
OMIM: 516070
PanelMode of inheritanceDetails
3 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 9.0
MITOCHONDRIAL
Phenotypes
Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 10.0
MITOCHONDRIAL
Phenotypes
Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Green
in Skeletal muscle channelopathy
R-numbers: R76
Signed-off version 3.0
MITOCHONDRIAL
Phenotypes
Can resemble skeletal muscle channelopathy