KMT2C

lysine methyltransferase 2C
OMIM: 606833, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green KMT2C in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.13

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KMT2C in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.13

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 2, MIM#617768
  • Neurodevelopmental disorder, MONDO:0700092, KMT2C-related

Green KMT2C in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.1

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 2, MIM#617768
  • Neurodevelopmental disorder, MONDO:0700092, KMT2C-related

Green KMT2C in Mendeliome


Version 2.354

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome 2, MIM#617768
  • Neurodevelopmental disorder, MONDO:0700092, KMT2C-related

Green KMT2C in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.30

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kleefstra syndrome 2, MIM# 617768
    • Neurodevelopmental disorder, MONDO:0700092, KMT2C-related

    Green KMT2C in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.4

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Kleefstra syndrome 2, MIM#617768
    • Neurodevelopmental disorder, MONDO:0700092, KMT2C-related

    Green KMT2C in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.60

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Kleefstra syndrome 2, MIM#617768
    • Neurodevelopmental disorder, MONDO:0700092, KMT2C-related

    Green KMT2C in Growth failure


    Version 2.12

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Kleefstra syndrome 2, MIM#617768
    • Neurodevelopmental disorder, MONDO:0700092, KMT2C-related

    Green KMT2C in Fetal anomalies


    Version 2.22

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