Gastrointestinal epithelial barrier disorders
Gene: IL2RGComment on list classification: Expert review green and previous curation indicates that variants in this gene are linked to gastrointestinal phenotypes. In Severe Combined Immunodeficiency (X-linked), chronic diarrhea is noted to be one of the gastrointestinal phenotypes.Created: 26 Jul 2018, 10:42 a.m.
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 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 312863Created: 6 Sep 2016, 8:03 a.m.
Gene: il2rg has been classified as Green List (High Evidence).
Mode of inheritance for gene: IL2RG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
IL2RG was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN
IL2RG was created by Olivia Niblock