Genomics England
GMS Panels
Panels
Genes and Entities

MT-ATP6

mitochondrially encoded ATP synthase 6
OMIM: 516060
PanelMode of inheritanceDetails
9 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.0
MITOCHONDRIAL
Phenotypes
Neuropathy, Ataxia, and Retinitis Pigmentosa
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
MITOCHONDRIAL
Phenotypes
Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500, Neuropathy, Ataxia, and Retinitis Pigmentosa
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MITOCHONDRIAL
Phenotypes
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
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
MITOCHONDRIAL
Phenotypes
Green
in NARP syndrome or maternally inherited Leigh syndrome
R-numbers: R351
Signed-off version 2.0
MITOCHONDRIAL
Phenotypes
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
Leber optic atrophy, 535000, neurogenic weakness, ataxia, and retinitis pigmentosa, retinopathy
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
MITOCHONDRIAL
Phenotypes
NARP syndrome, MONDO:0010794
Green
in Skeletal muscle channelopathy
R-numbers: R76
Signed-off version 3.0
MITOCHONDRIAL
Phenotypes
Can resemble skeletal muscle channelopathy