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
Green MT-ND4L in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • LEBER OPTIC ATROPHY
Tags
  • gene-checked
Green MT-ND4L in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
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
    • LEBER OPTIC ATROPHY
    Tags
    • gene-checked
    Green MT-ND4L in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    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
    Tags
    • gene-checked
    No list MT-ND4L in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-ND4L in Severe Paediatric Disorders


    Version 1.184

    		review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • LEBER OPTIC ATROPHY