MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
OMIM: 516000, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green MT-ND1 in Leber hereditary optic neuropathy


Version 2.9
Latest signed off version: v2.5 (22 Mar 2023)

review MITOCHONDRIAL
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Leber's hereditary optic neuropathy
  • External ophthalmoplegia
  • Optic neuropathy and nystagmus
Tags
  • gene-checked
No list MT-ND1 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

review MITOCHONDRIAL
Sources
  • Expert Review Removed
  • Literature
  • Other
Phenotypes
  • Sudden infant death syndrome, 272120
  • SIDS
  • SIDS
  • sudden infant death syndrome, 272120,
Tags
  • curated_removed
Green MT-ND1 in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Tags
  • gene-checked
Green MT-ND1 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.22
Latest signed off version: v4.0 (22 Mar 2023)

review MITOCHONDRIAL
Sources
  • London North GLH
  • Expert Review Green
  • UKGTN
Phenotypes
  • Optic neuropathy and nystagmus
  • External ophthalmoplegia
  • Leber's hereditary optic neuropathy
Tags
  • gene-checked
Green MT-ND1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • SUDDEN INFANT DEATH SYNDROME
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • DYSTONIA, ADULT-ONSET
  • MELAS SYNDROME
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Tags
  • gene-checked
Green MT-ND1 in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • MELAS SYNDROME
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    • LEBER OPTIC ATROPHY
    • DYSTONIA, ADULT-ONSET
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • SUDDEN INFANT DEATH SYNDROME
    Tags
    • gene-checked
    Red MT-ND1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Leber optic atrophy
    • Sudden infant death syndrome
    • Mitochondrial complex I deficiency
    • Dystonia, adult-onset
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome
    • MELAS syndrome
    • Deafness, nonsyndromic sensorineural, mitochondrial
    Green MT-ND1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.159
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • LEBER OPTIC ATROPHY
    • SUDDEN INFANT DEATH SYNDROME
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    • DYSTONIA, ADULT-ONSET
    • MELAS SYNDROME
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    Tags
    • gene-checked
    Red MT-ND1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Red
    Red MT-ND1 in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    No list MT-ND1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Phenotypes
    • MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
    Tags
    • curated_removed
    Green MT-ND1 in Severe Paediatric Disorders


    Version 1.182

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • MELAS
    • LEBER OPTIC ATROPHY
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    • ALZHEIMER DISEASE
    • SIDS
    • DYSTONIA, ADULT-ONSET