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Cytopenias and congenital anaemias

Gene: STAG2

Red List (low evidence)

STAG2 (stromal antigen 2)
EnsemblGeneIds (GRCh38): ENSG00000101972
EnsemblGeneIds (GRCh37): ENSG00000101972
OMIM: 300826, Gene2Phenotype
STAG2 is in 6 panels

2 reviews

Rebecca Foulger (Genomics England curator)

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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Acute myeloid leukaemia (AML); Especially in Down syndrome AML

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Especially in Down syndrome AML
Tags
somatic
OMIM
300826
Clinvar variants
Variants in STAG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for STAG2 were set to 28152414; 25006131; 26492932; 25550361

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

STAG2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

STAG2 was created by LouiseD