KMT2E

lysine methyltransferase 2E
OMIM: 608444, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red KMT2E in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red KMT2E in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
  • O'Donnell-Luria-Rodan syndrome, 618512
Green KMT2E in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green KMT2E in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • O'Donnell-Luria-Rodan syndrome, 618512