MT-ND1

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

11 panels

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


Level 2: Mitochondrial
Version 2.10
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 1.16

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 1.40

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


Level 2: Ophthalmology
Version 5.48
Latest signed off version: v5.0 (30 Apr 2025)

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 1.642

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


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

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


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

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


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Phenotypes
    • MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
    Tags
    • curated_removed