Genomics England
GMS Panels
Panels
Genes and Entities

MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
OMIM: 516000
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, External ophthalmoplegia, Optic neuropathy and nystagmus
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
MITOCHONDRIAL
Phenotypes
MELAS SYNDROME, MITOCHONDRIAL COMPLEX I DEFICIENCY, LEBER OPTIC ATROPHY, DYSTONIA, ADULT-ONSET, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, SUDDEN INFANT DEATH SYNDROME
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, SUDDEN INFANT DEATH SYNDROME, MITOCHONDRIAL COMPLEX I DEFICIENCY, DYSTONIA, ADULT-ONSET, MELAS SYNDROME, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
Optic neuropathy and nystagmus, External ophthalmoplegia, Leber's hereditary optic neuropathy