MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
OMIM: 516006
PanelMode of inheritanceDetails
4 panels
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
MELAS SYNDROME, STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA, LEBER OPTIC ATROPHY AND DYSTONIA, LEBER OPTIC ATROPHY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
R-numbers: R42
Signed-off version 1.2
MITOCHONDRIAL
Phenotypes
severe infantile-onset complex I deficiency, Nystagmus, Leber hereditary optic neuropathy
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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
R-numbers: R41, R42.2
Signed-off version 2.2
MITOCHONDRIAL
Phenotypes
Leber hereditary optic neuropathy, Nystagmus, severe infantile-onset complex I deficiency