Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: STXBP2

Green List (high evidence)

STXBP2 (syntaxin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 10 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 5 613101
OMIM
601717
Clinvar variants
Variants in STXBP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

5 Sep 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STXBP2 were set to 19804848; 20798128

5 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101

5 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

STXBP2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STXBP2 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

STXBP2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list