1. Genes and Genomic Entities
  2. MT-ND2

MT-ND2

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
OMIM: 516001, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red MT-ND2 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.10

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinal degeneration and nystagmus
Red MT-ND2 in Albinism or congenital nystagmus


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Retinal degeneration and nystagmus
Green MT-ND2 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
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
  • gene-checked
Green MT-ND2 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
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    • LEBER OPTIC ATROPHY
    • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
    Tags
    • gene-checked
    Green MT-ND2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    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
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
    Tags
    • gene-checked
    No list MT-ND2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-ND2 in Severe Paediatric Disorders


    Version 1.184

    		review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • LEBER OPTIC ATROPHY
    • MITOCHONDRIAL COMPLEX I DEFICIENCY
    • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY