Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: STXBP2
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Publications for STXBP2 were set to 19804848; 20798128
Phenotypes for gene STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101
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
STXBP2 was created by ellenmcdonagh
STXBP2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list