MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
OMIM: 516000
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, MITOCHONDRIAL COMPLEX I DEFICIENCY, LEBER OPTIC ATROPHY, DYSTONIA, ADULT-ONSET, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL, SUDDEN INFANT DEATH SYNDROME
R-numbers: R42
Signed-off version 1.2
MITOCHONDRIAL
Phenotypes
Leber's hereditary optic neuropathy, External ophthalmoplegia, Optic neuropathy and nystagmus
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, SUDDEN INFANT DEATH SYNDROME, MITOCHONDRIAL COMPLEX I DEFICIENCY, DYSTONIA, ADULT-ONSET, MELAS SYNDROME, DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
R-numbers: R41, R42.2
Signed-off version 2.2
MITOCHONDRIAL
Phenotypes
Optic neuropathy and nystagmus, External ophthalmoplegia, Leber's hereditary optic neuropathy