Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: XIAP
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. Five variants reported as X-linked hemizygotes
Created: 5 Sep 2016, 9:38 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 XIAP were set to 21173700; 17080092; 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Publications for XIAP were set to 21173700; 17080092; 27537055
XIAP was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Phenotypes for gene XIAP were set to Lymphoproliferative syndrome, X-linked, 2 300635
XIAP was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
XIAP was created by ellenmcdonagh