Cytopenias and congenital anaemiasGene: SMC3
Added 'somatic' tag since several publications report that somatic mutations are responsible for the AML phenotype (e.g. PMID:22817890).
Created: 9 Mar 2017, 2:34 p.m.
Comment on list classification: Kept rating as Red: Somatic variants responsible for the AML phenotype. Also case for monogenic mutations is unclear: in >1 case, SMC3 mutations have been found alongside mutations in other genes (PMID:28152414, PMID:22237025).
Created: 9 Mar 2017, 2:32 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.
Publications for SMC3 were set to 22817890; 25006131; 28152414, 22237025; 27470916
This gene has been classified as Red List (Low Evidence).
SMC3 was created by LouiseD
SMC3 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)