Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IL2RAEnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 10 panels
2 reviews
Neil shah (GOSH)
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} 601942Created: 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
-
- Monogenic diabetes
- Multi-organ autoimmune diabetes
- COVID-19 research
- Gastrointestinal epithelial barrier disorders
- Familial diabetes
- Neonatal diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial Meniere Disease
History Filter Activity
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.
Set publications
Sarah Leigh (Genomics England Curator)Publications for IL2RA were set to 23416241; 24116927; 17196245
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene IL2RA were set to Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
Created
Ellen McDonagh (Genomics England Curator)IL2RA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IL2RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list