KDM6A

lysine demethylase 6A
OMIM: 300128, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green KDM6A in Kabuki syndrome

Level 3: Kabuki
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

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 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
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Kabuki syndrome 2

Green KDM6A in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.0

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 2.0

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
  • IUIS Classification February 2018
Phenotypes
  • Kabuki Syndrome 2 due to KDM6A deficiency
  • Combined immunodeficiencies with associated or syndromic features

Amber KDM6A in Autism


Version 0.15

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 Fetal anomalies


Version 1.0

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 2.0

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 2.0

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

Green KDM6A in DDG2P


Version 2.0

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 2.0

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
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review
Phenotypes
  • Kabuki syndrome 2, 300867

Red KDM6A in Growth failure in early childhood


Version 1.3

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 3.0

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 1.0

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