Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: RAG2
Associated with phenotypes in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least eight variants reported
Created: 6 Sep 2016, 10:58 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.
RAG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene RAG2 were set to SCID/Hyper-IgM; Severe combined immunodeficiency, B cell-negative 601457; Omenn syndrome 603554
RAG2 was created by ellenmcdonagh
RAG2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list