Gene affected:
RAD21 - Double-strand-break repair protein rad21 homolog

Clinical significance
A protein involved in chromatin stabilisation that is mutated in a range of myeloid disorders including particularly AML and MDS. In MDS the effects of RAD21 mutation seem unfavourable to outcome, in AML the effects may be neutral or favourable (opposite to SF3B1)

Function of gene

RAD21 is part of the cohesin complex helping stabilise chromatin during cell division, repair of damaged DNA, and being active during apoptosis. Somatic mutation of the gene underlies some cases of Cornelia de Lange syndrome and trichorhinophalangeal syndrome type II. Cohesin gene mutations (particularly including RAD21) are associated with myeloid neoplasms – a range of cohesion genes may be mutated: STAG2, RAD21, SMC1A and SMC3 in a mutually exclusive manner

NGS panel gene coverage



Most frequently, RAD21 is studied as part of the cohesion complex (STAG2, RAD21, SMC1A and SMC3) so reports may not distinguish elements of that group. However, in many studies RAD21 is the most frequently affected gene.

AML (8-14% for cohesin complex group, RAD21 being most frequent)
In de novo AML cohesin gene mutations have longer overall survival and disease-free survival in some studies
Other myeloid disorders (1-10%)
Myelodysplastic syndromes (8%) of chronic myelomonocytic leukemia (10%), chronic myelogenous leukemia (6%) classical myeloproliferative neoplasms (1%)
Although.different members of the cohesion group have different reported frequencies in the disorders. Impact may be adverse, but studies are limited.


GeneWiki link:
Gene Wiki entry for RAD21
Outcome in AML (a)
Outcome in AML (b)
Other myeloid disorders