Gastrointestinal epithelial barrier disorders
Gene: STXBP2Comment 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 greenCreated: 26 Jul 2018, 11:20 a.m.
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
Gene: stxbp2 has been classified as Green List (High Evidence).
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
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']
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)
STXBP2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
STXBP2 was created by Olivia Niblock