Osteogenesis imperfecta
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
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: KDM6A.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KDM6A was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory