Cytopenias and congenital anaemias
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
Arianna Tucci (Genomics England Curator)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
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
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- Tags
- OMIM
- 300128
- Clinvar variants
- Variants in KDM6A
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- DDG2P
- Intellectual disability
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Clefting
- Congenital hyperinsulinism
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Kabuki syndrome
- CAKUT
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)KDM6A was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)KDM6A was created by LouiseD
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)KDM6A was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)