Genomics England
GMS Panels
Panels
Genes and Entities

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
OMIM: 516006
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 9.0
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 10.0
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 6.0
MITOCHONDRIAL
Phenotypes
Leber hereditary optic neuropathy, Nystagmus, severe infantile-onset complex I deficiency