1. Genes and Genomic Entities
  2. MT-ND4

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
OMIM: 516003, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green MT-ND4 in Optic neuropathy


Level 2: Ophthalmology
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

review MITOCHONDRIAL
Sources
  • London North GLH
  • Expert Review Green
  • UKGTN
Phenotypes
  • Leber's hereditary optic neuropathy
Tags
  • gene-therapy-trial
  • gene-checked
Green MT-ND4 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
  • MELAS SYNDROME
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
  • gene-therapy-trial
  • gene-checked
Green MT-ND4 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

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
    • LEBER OPTIC ATROPHY AND DYSTONIA
    • LEBER OPTIC ATROPHY
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    Tags
    • gene-checked
    Red MT-ND4 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Mitochondrial complex I deficiency
    • autism spectrum disorder
    • intellectual disability
    Tags
    • cnv
    Green MT-ND4 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • LEBER OPTIC ATROPHY
    • MELAS SYNDROME
    • LEBER OPTIC ATROPHY AND DYSTONIA
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    Tags
    • gene-therapy-trial
    • gene-checked
    Red MT-ND4 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.3
    Latest signed off version: v9.0 (6 May 2026)

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Red
    No list MT-ND4 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 8.3
    Latest signed off version: v8.0 (6 May 2026)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Phenotypes
    • Leber Optic Atrophy And Dystonia
    Tags
    • curated_removed