This Panel is marked as Internal
Test MOI validation panel - do not edit
Gene: KDM6A
KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 16 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- OMIM test - MOI is X-linked biallelic, but OMIM has XLD
- OMIM
- 300128
- Clinvar variants
- Variants in KDM6A
- Penetrance
- None
- 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
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: kdm6a has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: KDM6A was added gene: KDM6A was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM6A were set to OMIM test - MOI is X-linked biallelic, but OMIM has XLD