Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IL2RA
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 four cases.Created: 5 Sep 2016, 7:31 a.m.
Comment on phenotypes: Variants also reported in {Diabetes, mellitus, insulin-dependent, susceptibility to, 10} 601942Created: 5 Sep 2016, 7:04 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 IL2RA were set to 23416241; 24116927; 17196245
Phenotypes for IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
IL2RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Phenotypes for gene IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
IL2RA was created by ellenmcdonagh
IL2RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list