MT-ND6

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red MT-ND6 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus

Green MT-ND6 in Leber hereditary optic neuropathy


Version 1.3
Signed off v.1.2 on 18 Feb 2020

review MITOCHONDRIAL
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • severe infantile-onset complex I deficiency
  • Nystagmus
  • Leber hereditary optic neuropathy

Red MT-ND6 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review MITOCHONDRIAL
Sources
  • UKGTN
Phenotypes
  • Leber Optic Atrophy And Dystonia

Red MT-ND6 in Albinism or congenital nystagmus


Version 1.4
Signed off v.1.2 on 3 Mar 2020

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 1.17

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature

Green MT-ND6 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.3
Signed off v.2.2 on 19 Feb 2020

review MITOCHONDRIAL
Sources
  • London North GLH
  • Expert Review Green
  • UKGTN
Phenotypes
  • Leber hereditary optic neuropathy
  • Nystagmus
  • severe infantile-onset complex I deficiency

Red MT-ND6 in Neurodegenerative disorders - adult onset


Version 2.4
Signed off v.2.2 on 2 Mar 2020

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 1.413

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

Green MT-ND6 in Inborn errors of metabolism


Version 2.5
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green MT-ND6 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.5
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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

    Red MT-ND6 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.8
    Signed off v.2.7 on 25 Feb 2020

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Red
    Tags
    • watchlist

    Red MT-ND6 in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leber Optic Atrophy And Dystonia

    Green MT-ND6 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review MITOCHONDRIAL
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Leber Optic Atrophy And Dystonia

    Green MT-ND6 in Severe Paediatric Disorders


    Version 1.1

    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