MT-ND4

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green MT-ND4 in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.9

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Optic, Atrophy, Hereditary, Leber
Green MT-ND4 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
Tags
  • gene-checked
Green MT-ND4 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

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 1.620

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 - targeted testing not possible


Version 5.22
Latest signed off version: v5.0 (1 May 2024)

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.38
    Latest signed off version: v6.0 (1 May 2024)

    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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.15
    Latest signed off version: v5.0 (1 May 2024)

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


    Version 4.6
    Latest signed off version: v4.0 (1 May 2024)

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Phenotypes
    • Leber Optic Atrophy And Dystonia
    Tags
    • curated_removed
    Green MT-ND4 in Severe Paediatric Disorders


    Version 1.184

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • LEBER OPTIC ATROPHY
    • LEBER OPTIC ATROPHY AND DYSTONIA
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    • MELAS SYNDROME