Gastrointestinal epithelial barrier disorders

Gene: IL2RG

Green List (high evidence)

IL2RG (interleukin 2 receptor subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000147168
EnsemblGeneIds (GRCh37): ENSG00000147168
OMIM: 308380, Gene2Phenotype
IL2RG is in 7 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.

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here:
Created: 14 May 2018, 9:46 a.m.

Neil shah (GOSH)

Green List (high evidence)

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.


Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Expert Review Green
  • Inflammatory Bowel Disease (Very Early Onset)
Clinvar variants
Variants in IL2RG
Panels with this gene

History Filter Activity

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: il2rg has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 1

Set mode of inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for gene: IL2RG was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

IL2RG was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN

17 Apr 2018, Gel status: 1


Olivia Niblock (Genomics England Curator)

IL2RG was created by Olivia Niblock