KMT2B

lysine methyltransferase 2B
OMIM: 606834, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green KMT2B in Early onset dystonia

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • early-onset dystonia
Tags
  • treatable

Green KMT2B in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 28, childhood-onset 617284
Tags
  • treatable

Red KMT2B in Neurodegenerative disorders - adult onset


Version 2.32
Signed off v.2.31 on 8 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • early-onset dystonia
Tags
  • treatable

Amber KMT2B in Fetal anomalies


Version 1.108
Signed off v.1.92 on 21 Aug 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Complex early-onset dystonia

Amber KMT2B in DDG2P


Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Complex early-onset dystonia

    Amber KMT2B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dystonia 28, childhood-onset, 617284
    Tags
    • watchlist

    Green KMT2B in Adult onset movement disorder


    Version 1.15
    Signed off v.1.14 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Dystonia 28, childhood-onset 617284
    • early-onset dystonia

    Green KMT2B in Childhood onset dystonia or chorea or related movement disorder


    Version 1.62
    Signed off v.1.58 on 6 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia 28, childhood-onset 617284
    • early-onset dystonia

    Green KMT2B in Severe Paediatric Disorders


    Version 1.12

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dystonia 28, childhood-onset, 617284