Cytopenias and congenital anaemiasGene: CALR
Comment on publications: added publications showing evidence for somatic variants only
Created: 28 Feb 2017, 1:35 p.m.
Variants in this CALR that cause the disorder are somatic variants rather than germline
Created: 28 Feb 2017, 1:27 p.m.
Mode of inheritance
Myelofibrosis; Essential thrombocythemia (ET)
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.
This gene has been classified as Red List (Low Evidence).
Publications for CALR were set to 24325356; 24325359
Phenotypes for CALR were set to Myelofibrosis; Essential thrombocythemia (ET);Myelofibrosis, somatic, 254450;Thrombocythemia, somatic,187950
CALR was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
CALR was created by LouiseD