Gastrointestinal epithelial barrier disorders
Gene: IL2RA

IL2RA (interleukin 2 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 10 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment 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.

Created: 26 Jul 2018, 11:32 a.m.

Panel version: 1.37

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)

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} 601942
Created: 5 Sep 2016, 7:04 a.m.

Created: 5 Sep 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.54

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory

Phenotypes

Early Onset Inflammatory Bowel Disease
Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367

OMIM

147730

Clinvar variants

Variants in IL2RA

Penetrance

None

Publications

Panels with this gene