KMT2E

lysine methyltransferase 2E
OMIM: 608444, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber KMT2E in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • O'Donnell-Luria-Rodan syndrome
  • INTELLECTUAL DISABILITY
  • O'Donnell-Luria-Rodan syndrome, 618512
Green KMT2E in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INTELLECTUAL DISABILITY
    • Neurodevelopmental disorder and Epilepsy 618512
    Green KMT2E in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome, 618512
    • Global developmental delay
    • Intellectual disability
    • Autism
    • Seizures
    • Abnormality of skull size
    Green KMT2E in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome, 618512
    • Global developmental delay
    • Intellectual disability
    • Autism
    • Seizures
    • Abnormality of skull size