Gastrointestinal epithelial barrier disorders
Gene: IL2RAComment on list classification: Expert review and previous curation have suggested that variants in this gene are linked to gastrointestinal phenotypes, and therefore this gene will be promoted to green.Created: 26 Jul 2018, 11:32 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 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.
Gene: il2ra 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
Model of inheritance for gene IL2RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene IL2RA were set to Early Onset Inflammatory Bowel Disease, Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367 Publications for gene IL2RA was set to ['23416241', '24116927', '17196245']
IL2RA was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
IL2RA was created by Olivia Niblock