CAKUT
Gene: KDM6AEnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 16 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by expert reviewer. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the evidence and review there is enough evidence to support a gene-disease association; therefore, this gene has been given Green status.Created: 11 May 2020, 10:23 a.m. | Last Modified: 11 May 2020, 10:23 a.m.
Panel Version: 1.95
Zornitza Stark (Australian Genomics)
Renal malformations are a recognised feature of this syndrome.
Sources: Expert listCreated: 16 Jan 2020, 4:10 a.m.
Mode of inheritance
Other
Phenotypes
Kabuki syndrome 2, MIM# 300867
Publications
Details
- Mode of Inheritance
- 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
- Phenotypes
-
- Kabuki syndrome 2, 300867
- OMIM
- 300128
- Clinvar variants
- Variants in KDM6A
- Penetrance
- None
- Publications
- Panels with this gene
-
- CAKUT
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Cytopenias and congenital anaemias
- COVID-19 research
- Clefting
- Structural eye disease
- Monogenic short stature
- Congenital hyperinsulinism
- Osteogenesis imperfecta
- Intellectual disability
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Kabuki syndrome
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: kdm6a has been classified as Green List (High Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: KDM6A was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2, MIM# 300867 to Kabuki syndrome 2, 300867
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: KDM6A was added gene: KDM6A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: KDM6A was set to Other Publications for gene: KDM6A were set to 23535010 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867 Review for gene: KDM6A was set to GREEN