Genomics England
GMS Panels
Panels
Genes and Entities

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
OMIM: 516006
PanelMode of inheritanceDetails
4 panels
Green
in Leber hereditary optic neuropathy
R-numbers: R41.3, R42.1
Signed-off version 2.5
MITOCHONDRIAL
Phenotypes
severe infantile-onset complex I deficiency, Nystagmus, Leber hereditary optic neuropathy
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
MELAS SYNDROME, STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA, LEBER OPTIC ATROPHY AND DYSTONIA, LEBER OPTIC ATROPHY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, LEBER OPTIC ATROPHY AND DYSTONIA, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, MELAS SYNDROME, STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
Leber hereditary optic neuropathy, Nystagmus, severe infantile-onset complex I deficiency