Cytopenias and congenital anaemias
Gene: BCOREnsemblGeneIds (GRCh38): ENSG00000183337
EnsemblGeneIds (GRCh37): ENSG00000183337
OMIM: 300485, Gene2Phenotype
BCOR is in 10 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Somatic variants are associated with aplastic anaemia, as indicated by COSMIC census gene list and PMID: 28107566.Created: 1 Mar 2017, 2:17 p.m.
Added 'prognosis' and 'treatable' tags: BCOR and BCORL1 mutations have been associated with improved response to immunosuppression, and "favourable" prognosis together with mutations in PIGA - PMID: 28107566.Created: 1 Mar 2017, 2:14 p.m.
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)
- aquired aplastic anaemia
- Tags
- OMIM
- 300485
- Clinvar variants
- Variants in BCOR
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BCOR were set to Acute myeloid leukaemia (AML); aquired aplastic anaemia
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BCOR were set to Acute myeloid leukaemia (AML);aplastic anaemia
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BCOR were set to 28107566
Added New Source
Louise Daugherty (Genomics England Curator)BCOR was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)BCOR was created by LouiseD