Cytopenias and congenital anaemiasGene: STAG2
Added 'somatic' tag since somatic variants are responsible for the haematological phenotype (E.g. PMID:26492932 and PMID:25006131).
Created: 9 Mar 2017, 2:51 p.m.
Comment on list classification: Kept rating as red: Somatic variants responsible for the AML phenotype. Also, at least one publication indicating that STAG2 variants may occur alongside variants in other genes in AML patients (PMID:28152414).
Created: 9 Mar 2017, 2:49 p.m.
Somatic variants only, listed in COSMIC cancer gene census.
Created: 9 Mar 2017, 2:36 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 STAG2 were set to 28152414; 25006131; 26492932; 25550361
This gene has been classified as Red List (Low Evidence).
STAG2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
STAG2 was created by LouiseD