KDM6A

lysine demethylase 6A
OMIM: 300128, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green KDM6A in Kabuki syndrome

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

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Kabuki syndrome 2
  • Kabuki Syndrome Type 2

Green KDM6A in IUGR and IGF abnormalities

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

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Kabuki

Green KDM6A in COVID-19 research


Level 2: Viral research
Version 1.59

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Kabuki Syndrome 2 due to KDM6A deficiency
  • 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 KDM6A in Deafness and congenital structural abnormalities

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

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Kabuki syndrome 2

Green KDM6A 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Kabuki syndrome 2, 300867
  • X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome

Red KDM6A in Primary immunodeficiency


Version 2.175
Signed off v.2.1 on 24 Feb 2020

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • 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
  • Kabuki Syndrome 2 due to KDM6A deficiency
  • Combined immunodeficiencies with associated or syndromic features

Amber KDM6A in Autism


Version 0.16

review Not set
Sources
  • Expert Review Amber
  • SFARI

Red KDM6A in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.73

review Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic

Green KDM6A 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Kabuki syndrome 2, 300867

    Green KDM6A in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • KABUKI SYNDROME 2

    Red KDM6A in Craniosynostosis

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

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Kabuki syndrome 2 300867

    No list KDM6A 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 KDM6A in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • KABUKI SYNDROME 2 300867

    Green KDM6A 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Expert Review
    Phenotypes
    • Kabuki syndrome 2, 300867

    Red KDM6A in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    Phenotypes
    • Kabuki

    Green KDM6A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Kabuki syndrome 2, 300867
    • Kabuki syndrome
    • KABUKI SYNDROME 2
    • KABUK2

    Amber KDM6A in Structural eye disease


    Version 1.9
    Signed off v.1.3 on 4 Mar 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Amber
    • London North GLH
    Phenotypes
    • Kabuki Syndrome 2, KABUK2, 300867

    Green KDM6A in Kidneyome_SuperPanel_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.2

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

    Green KDM6A in Severe Paediatric Disorders


    Version 1.6

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Kabuki syndrome 2, 300867