KMT2D

lysine methyltransferase 2D
OMIM: 602113, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green KMT2D in Kabuki syndrome

Level 3: Kabuki
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Kabuki Syndrome
  • Kabuki Syndrome Type 1

No list KMT2D in Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • KMT2D-associated neurodevelopmental syndrome

Green KMT2D in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Kabuki

No list KMT2D in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.23

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Kabuki syndrome

Green KMT2D in COVID-19 research


Level 2: Viral research
Version 1.69

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Kabuki syndrome 1, 147920
  • Combined immunodeficiencies with associated or syndromic features
  • Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present

Green KMT2D in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Kabuki syndrome 1 147920

Green KMT2D in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.4
Signed off v.2.3 on 25 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Kabuki syndrome 1, 147920
  • Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome

Red KMT2D in Primary immunodeficiency


Version 2.199
Signed off v.2.1 on 24 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Kabuki syndrome 1, 147920
  • Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present
  • Combined immunodeficiencies with associated or syndromic features

Green KMT2D in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.20
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Kabuki syndrome 1 - 147920

    Green KMT2D in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.153

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Kabuki syndrome 1, 147920

    Green KMT2D in Fetal anomalies


    Version 1.97
    Signed off v.1.92 on 21 Aug 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • KABUKI SYNDROME

    Green KMT2D in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Kabuki syndrome 147920
    • 147920

    No list KMT2D in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.6
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age

    Green KMT2D in DDG2P


    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • KABUKI SYNDROME 147920

    Green KMT2D in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.3
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    • Emory Genetics Laboratory
    • Expert Review
    Phenotypes
    • Kabuki syndrome 1, 147920

    Green KMT2D in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.28

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • microphthalmia
    • Kabuki syndrome 1, 147920

    Red KMT2D in Growth failure in early childhood


    Version 1.10
    Signed off v.1.4 on 3 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • Kabuki

    Green KMT2D in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.363
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Kabuki syndrome

    Green KMT2D in Structural eye disease


    Version 1.11
    Signed off v.1.3 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Kabuki syndrome 1 (can include coloboma), 147920

    Green KMT2D in Severe Paediatric Disorders


    Version 1.11

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Kabuki syndrome 1, 147920