Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: LRBA
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
LRBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
LRBA was created by ellenmcdonagh
LRBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list