MT-ATP6

mitochondrially encoded ATP synthase 6
OMIM: 516060
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MITOCHONDRIAL
Phenotypes
Neuropathy, Ataxia, and Retinitis Pigmentosa
R-numbers: R54
Signed-off version 2.13
MITOCHONDRIAL
Phenotypes
Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500, Neuropathy, Ataxia, and Retinitis Pigmentosa
R-numbers: R78
Signed-off version 1.2
MITOCHONDRIAL
Phenotypes
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MITOCHONDRIAL
Phenotypes
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MITOCHONDRIAL
Phenotypes
R-numbers: R41, R42.2
Signed-off version 2.2
MITOCHONDRIAL
Phenotypes
Leber optic atrophy, 535000, neurogenic weakness, ataxia, and retinitis pigmentosa, retinopathy
R-numbers: R76
Signed-off version 1.2
MITOCHONDRIAL
Phenotypes
Can resemble skeletal muscle channelopathy