1. Genes and Genomic Entities
  2. KMT2A

KMT2A

lysine methyltransferase 2A
OMIM: 159555, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green KMT2A in COVID-19 research


Level 2: Viral research
Version 1.141

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • ESID Registry 20171117
Phenotypes
  • Wiedemann-Steiner syndrome with Congenital immunodeficiency
  • Unclassified antibody deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability
Green KMT2A in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • ESID Registry 20171117
Phenotypes
  • Wiedemann-Steiner syndrome, OMIM:605130
Green KMT2A in Autism


Version 0.36

review Not set
Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • EP, ASD, EPS, DD/NDD, ID
  • Wiedemann-Steiner syndrome
Red KMT2A in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic
Green KMT2A in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Wiedemann-Steiner syndrome, OMIM:605130
Green KMT2A in DDG2P


Version 3.87
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
    • WIEDEMANN-STEINER SYNDROME 605130
    Amber KMT2A in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Wiedemann-Steiner syndrome, OMIM:605130
    Green KMT2A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Wiedemann-Steiner syndrome, OMIM:605130
    Green KMT2A in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukemia, myeloid/lymphoid or mixed-lineage, 159555
    • Wiedemann-Steiner syndrome, 605130