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 7.0
MITOCHONDRIAL
Phenotypes
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY, CARDIOMYOPATHY, INFANTILE HYPERTROPHIC, BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
MITOCHONDRIAL
Phenotypes
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC, CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY, BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
Green
in Skeletal muscle channelopathy
R-numbers: R76
Signed-off version 3.0
MITOCHONDRIAL
Phenotypes
Can resemble skeletal muscle channelopathy