PanelApp (test)
  1. Genes and Genomic Entities
  2. KMT2A

KMT2A

lysine methyltransferase 2A
OMIM: 159555, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green KMT2A in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

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

Green KMT2A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Wiedemann-Steiner syndrome - #605130

Green KMT2A in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

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

Green KMT2A in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.46

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiedemann-Steiner syndrome, MIM# 605130 AD

Green KMT2A in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiedemann-Steiner syndrome, MIM# 605130 AD

Green KMT2A 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, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Wiedemann-Steiner syndrome MIM#605130

    Amber KMT2A in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Wiedemann-Steiner syndrome MIM#605130

    Green KMT2A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Wiedemann-Steiner syndrome, MIM# 605130 AD

    Amber KMT2A in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Wiedemann-Steiner syndrome, OMIM:605130

    Green KMT2A in Growth failure


    Version 1.76

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Wiedemann-Steiner syndrome
    • OMIM #605130

    Green KMT2A in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.74

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Wiedemann-Steiner syndrome MIM#605130

    Green KMT2A in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Wiedemann-Steiner syndrome, MIM# 605130