This Panel is marked as Internal
Anaemias and red cell disorders
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
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- OMIM
- 300128
- Clinvar variants
- Variants in KDM6A
- Penetrance
- Complete
- Panels with this gene
-
- Kabuki syndrome
- Clefting
- CAKUT
- Deafness and congenital structural abnormalities
- Cytopenias and congenital anaemias
- COVID-19 research
- Intellectual disability
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Structural eye disease
- Congenital hyperinsulinism
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Monogenic short stature
- DDG2P
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)KDM6A was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)KDM6A was created by BRIDGE