1. Genes and Genomic Entities
  2. MT-ND6

MT-ND6

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

16 panels

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

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

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
Green MT-ND6 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
  • 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 1.147

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


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

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 1.39

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


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

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 1.617

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 - 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
    • 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 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
    • 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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leber Optic Atrophy And Dystonia
    No list MT-ND6 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review MITOCHONDRIAL
    Sources
    • Literature
    Phenotypes
    • LHON
    • peripheral neuropathy
    No list MT-ND6 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • PanelApp
    • London North GLH
    Phenotypes
    • Leber Optic Atrophy And Dystonia
    Tags
    • curated_removed
    Green MT-ND6 in Severe Paediatric Disorders


    Version 1.184

    		review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
    • LEBER OPTIC ATROPHY
    • LEBER OPTIC ATROPHY AND DYSTONIA
    • MELAS SYNDROME
    • STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
    Green MT-ND6 in NARP syndrome or maternally inherited Leigh syndrome


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

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