Genomics England
GMS Panels
Panels
Genes and Entities

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
OMIM: 516003
PanelMode of inheritanceDetails
4 panels
Green
in Leber hereditary optic neuropathy
R-numbers: R41.3, R42.1
Signed-off version 2.5
MITOCHONDRIAL
Phenotypes
Leber's 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 6.14
MITOCHONDRIAL
Phenotypes
MELAS SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, LEBER OPTIC ATROPHY, MITOCHONDRIAL COMPLEX I DEFICIENCY
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 7.4
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, MELAS SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, MITOCHONDRIAL COMPLEX I DEFICIENCY
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
Leber's hereditary optic neuropathy