Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: STXBP2EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 9 panels
2 reviews
Neil shah (GOSH)
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
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Haematological malignancies cancer susceptibility
- Intestinal failure or congenital diarrhoea
- Inherited bleeding disorders
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
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.
Set publications
Sarah Leigh (Genomics England Curator)Publications for STXBP2 were set to 19804848; 20798128
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101
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
Created
Ellen McDonagh (Genomics England Curator)STXBP2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)STXBP2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list