Gastrointestinal epithelial barrier disorders
Gene: LRBAComment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018Created: 25 Jul 2018, 4:22 p.m.
Associated with phenotype in OMIM and G2P / DD (Probable). Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Six different homozygous variants reported.Created: 5 Sep 2016, 6:58 a.m.
Publications
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
Gene: lrba has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene LRBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene LRBA were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700 Publications for gene LRBA was set to ['27302973']
UKGTN was added to LRBA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene LRBA were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
LRBA was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
LRBA was created by Olivia Niblock