MT-ATP6

mitochondrially encoded ATP synthase 6
OMIM: 516060
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
MITOCHONDRIAL
Phenotypes
Neuropathy, Ataxia, and Retinitis Pigmentosa
R-numbers: R54
Signed-off version 5.3
MITOCHONDRIAL
Phenotypes
Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500, Neuropathy, Ataxia, and Retinitis Pigmentosa
R-numbers: R78
Signed-off version 4.11
MITOCHONDRIAL
Phenotypes
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 5.6
MITOCHONDRIAL
Phenotypes
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
MITOCHONDRIAL
Phenotypes
R-numbers: R351
Signed-off version 1.3
MITOCHONDRIAL
Phenotypes
R-numbers: R41
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
Leber optic atrophy, 535000, neurogenic weakness, ataxia, and retinitis pigmentosa, retinopathy
R-numbers: R76
Signed-off version 3.0
MITOCHONDRIAL
Phenotypes
Can resemble skeletal muscle channelopathy