KMT2E

lysine methyltransferase 2E
OMIM: 608444, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green KMT2E in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

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

Green KMT2E in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • O'Donnell-Luria-Rodan syndrome, MIM# 618512

Green KMT2E in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • O'Donnell-Luria-Rodan syndrome MIM#618512

Green KMT2E in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome, MIM# 618512
    • Intellectual disability
    • Autism
    • Seizures

    Green KMT2E in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Amber KMT2E in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome MIM#618512