Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: IL2RG
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:46 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least 13 variants reported.
Created: 6 Sep 2016, 8:05 a.m.
Comment on phenotypes: Variants also reported in Combined immunodeficiency, X-linked, moderate 312863
Created: 6 Sep 2016, 8:03 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.
Phenotypes for IL2RG were set to Severe combined immunodeficiency, X-linked 300400
IL2RG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene IL2RG were set to Severe combined immunodeficiency, X-linked 300400
IL2RG was created by ellenmcdonagh
IL2RG was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list