Gastrointestinal epithelial barrier disorders
Gene: IL2RG

IL2RG (interleukin 2 receptor subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000147168
EnsemblGeneIds (GRCh37): ENSG00000147168
OMIM: 308380, Gene2Phenotype
IL2RG is in 5 panels

4 reviews

Olivia Niblock (Genomics England Curator)

Comment 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.

Created: 26 Jul 2018, 10:42 a.m.

Panel version: 1.17

Ellen McDonagh (Genomics England Curator)

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.

Created: 14 May 2018, 9:46 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 1.16

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.

Created: 6 Sep 2016, 8:05 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.98

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
UKGTN

Phenotypes

Inflammatory Bowel Disease (Very Early Onset)

OMIM

308380

Clinvar variants

Variants in IL2RG

Penetrance

None

Panels with this gene