IUGR and IGF abnormalities
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
2 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
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
- Emory Genetics Laboratory
- Phenotypes
-
- Kabuki
- OMIM
- 300128
- Clinvar variants
- Variants in KDM6A
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Kabuki syndrome
- Cytopenias and congenital anaemias
- CAKUT
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- COVID-19 research
- Clefting
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Structural eye disease
- Monogenic short stature
- Congenital hyperinsulinism
- Osteogenesis imperfecta
- Intellectual disability
- IUGR and IGF abnormalities
- DDG2P
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for KDM6A were set to Kabuki
25 Apr 2016, Gel status: 4
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for KDM6A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()KDM6A was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory