KMT2C

lysine methyltransferase 2C
OMIM: 606833, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KMT2C in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KMT2C in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 2, MIM#617768

Green KMT2C in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kleefstra syndrome 2, MIM# 617768

    Green KMT2C in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Kleefstra syndrome 2, MIM#617768

    Green KMT2C in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Kleefstra syndrome 2, MIM#617768