Cytopenias and congenital anaemiasGene: RAD21
Comment when marking as ready: COSMIC census lists somatic RAD21 variants for AML, endometrium, colorectal and lung cancers. (Associated with phenotype Cornelia de Lange syndrome 4 614701 in OMIM and as a confirmed G2P. At least 2 variants reported in 2 cases. PHENOTYPE NOT RELEVANT TO THIS PANEL)
Created: 9 Mar 2017, 2:54 p.m.
Mode of inheritance
Acute myeloid leukaemia (AML); Especially in Down syndrome 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.
This gene has been classified as Red List (Low Evidence).
Publications for RAD21 were set to 25006131; 24904756
RAD21 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
RAD21 was created by LouiseD