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  2. Haematological malignancies cancer susceptibility
  3. STXBP2
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Haematological malignancies cancer susceptibility

Gene: STXBP2

Amber List (moderate evidence)
STXBP2 (syntaxin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 9 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to Amber for review.
Created: 3 Apr 2019, 3:48 p.m.
Gene on a list submitted by Clare Turnbull.
Sources: Expert list, Literature
Created: 3 Apr 2019, 3:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
risk of lymphoma; Hemophagocytic lymphohistiocytosis, familial, 5 613101

Publications

Created: 3 Apr 2019, 3:47 p.m.

Panel version: 1.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • risk of lymphoma
  • predisposition to acute lymphoblastic leukemia (ALL)
  • Hemophagocytic lymphohistiocytosis, familial, 5 613101
OMIM
601717
Clinvar variants
Variants in STXBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: STXBP2 were changed from risk of lymphoma; Hemophagocytic lymphohistiocytosis, familial, 5 613101 to risk of lymphoma; predisposition to acute lymphoblastic leukemia (ALL); Hemophagocytic lymphohistiocytosis, familial, 5 613101

3 Apr 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene STXBP2 were changed from 23100279 to 23100279; 24827398

3 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: stxbp2 has been classified as Amber List (Moderate Evidence).

3 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: STXBP2 was added gene: STXBP2 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Literature Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STXBP2 were set to 23100279 Phenotypes for gene: STXBP2 were set to risk of lymphoma; Hemophagocytic lymphohistiocytosis, familial, 5 613101