1. Genes and Genomic Entities
  2. MT-ND6

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
OMIM: 516006, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Red MT-ND6 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.11

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
Green MT-ND6 in Leber hereditary optic neuropathy


Level 2: Mitochondrial
Version 2.10
Latest signed off version: v2.5 (22 Mar 2023)

review MITOCHONDRIAL
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • severe infantile-onset complex I deficiency
  • Nystagmus
  • Leber hereditary optic neuropathy
Tags
  • gene-checked
Red MT-ND6 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review MITOCHONDRIAL
Sources
  • UKGTN
Phenotypes
  • Leber Optic Atrophy And Dystonia
Red MT-ND6 in Albinism or congenital nystagmus


Level 2: Ophthalmology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

review MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Nystagmus
Green MT-ND6 in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.40

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Tags
  • gene-checked
Green MT-ND6 in Optic neuropathy


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

review MITOCHONDRIAL
Sources
  • London North GLH
  • Expert Review Green
  • UKGTN
Phenotypes
  • Leber hereditary optic neuropathy
  • Nystagmus
  • severe infantile-onset complex I deficiency
Tags
  • gene-checked
Red MT-ND6 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

review MITOCHONDRIAL
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Leber Optic Atrophy And Dystonia
Green MT-ND6 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
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • MELAS SYNDROME
  • STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
Tags
  • gene-checked
Green MT-ND6 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
    • MELAS SYNDROME
    • STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
    • LEBER OPTIC ATROPHY AND DYSTONIA
    • LEBER OPTIC ATROPHY
    • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
    Tags
    • gene-checked
    Green MT-ND6 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
    • LEBER OPTIC ATROPHY AND DYSTONIA
    • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
    • MELAS SYNDROME
    • STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
    Tags
    • gene-checked
    Red MT-ND6 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Red
    Tags
    • watchlist
    Red MT-ND6 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leber Optic Atrophy And Dystonia
    Red MT-ND6 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Leber hereditary optic neuropathy
    No list MT-ND6 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
    • PanelApp
    • London North GLH
    Phenotypes
    • Leber Optic Atrophy And Dystonia
    Tags
    • curated_removed
    No list MT-ND6 in NARP syndrome or maternally inherited Leigh syndrome


    Level 2: Mitochondrial
    Version 2.2
    Latest signed off version: v2.0 (7 Aug 2024)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • NHS GMS
    Tags
    • curated_removed
    • gene-checked