Cytopenias and congenital anaemiasGene: BCOR
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.
Mode of inheritance
Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Phenotypes for BCOR were set to Acute myeloid leukaemia (AML); aquired aplastic anaemia
Phenotypes for BCOR were set to Acute myeloid leukaemia (AML);aplastic anaemia
This gene has been classified as Red List (Low Evidence).
Publications for BCOR were set to 28107566
BCOR was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
BCOR was created by LouiseD