Gastrointestinal epithelial barrier disorders
Gene: XIAPComment on list classification: Previous curation and expert review suggests that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, this gene will be promoted to green.Created: 26 Jul 2018, 11:16 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. Five variants reported as X-linked hemizygotesCreated: 5 Sep 2016, 9:38 a.m.
Publications for gene: XIAP were set to 21173700; 17080092; 27537055
Gene: xiap 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
Phenotypes for gene XIAP were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Lymphoproliferative syndrome, X-linked, 2 300635 Publications for gene XIAP was set to ['21173700', '17080092', '27537055']
Model of inheritance for gene XIAP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene XIAP were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Lymphoproliferative syndrome, X-linked, 2 300635 Publications for gene XIAP was 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.']
UKGTN was added to XIAP. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene XIAP were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
XIAP was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
XIAP was created by Olivia Niblock