1. Genes and Genomic Entities
  2. MT-ND4L

MT-ND4L

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
OMIM: 516004, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber MT-ND4L in Optic neuropathy


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

review MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leber hereditary optic neuropathy, MONDO:0010788
Tags
  • technical-limitations
Green MT-ND4L 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
Tags
  • gene-checked
Green MT-ND4L 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
    • LEBER OPTIC ATROPHY
    Tags
    • gene-checked
    Green MT-ND4L 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
    Tags
    • gene-checked
    No list MT-ND4L 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
    Tags
    • curated_removed