Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: IL2RA

Green List (high evidence)

IL2RA (interleukin 2 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 12 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
OMIM
147730
Clinvar variants
Variants in IL2RA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

5 Sep 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for IL2RA were set to 23416241; 24116927; 17196245

5 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367

2 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

IL2RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IL2RA was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IL2RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list