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  3. STXBP2
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Gastrointestinal epithelial barrier disorders

Gene: STXBP2

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

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Expert review and previous curation suggest that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes, therefore, I will promote this gene to green
Created: 26 Jul 2018, 11:20 a.m.
Created: 26 Jul 2018, 11:20 a.m.

Panel version: 1.30

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. At least 7 variants reported, four different variants as homozygotes and three as compound heterozygotes.
Created: 5 Sep 2016, 9:19 a.m.

Publications

Created: 5 Sep 2016, 9:19 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Hemophagocytic lymphohistiocytosis, familial, 5 613101
OMIM
601717
Clinvar variants
Variants in STXBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: stxbp2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 2

Set mode of inheritance, Set penetrance, Set publications

Olivia Niblock (Genomics England Curator)

Model of inheritance for gene STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene STXBP2 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Hemophagocytic lymphohistiocytosis, familial, 5 613101 Publications for gene STXBP2 was set to ['19804848', '20798128']

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Olivia Niblock (Genomics England Curator)

UKGTN was added to STXBP2. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene STXBP2 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

STXBP2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

STXBP2 was created by Olivia Niblock