Multi-organ autoimmune diabetes
Gene: IL2RA
IL2RA (interleukin 2 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 10 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Kept as red due to expert review.Created: 22 Jul 2016, 3:09 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Interleukin-2 receptor, alpha chain, deficiency of, 606367
- {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942
- OMIM
- 147730
- Clinvar variants
- Variants in IL2RA
- Penetrance
- Complete
- Panels with this gene
-
- Neonatal diabetes
- Monogenic diabetes
- Multi-organ autoimmune diabetes
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal epithelial barrier disorders
- Familial diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Familial Meniere Disease
History Filter Activity
25 Jul 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
22 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 Jul 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IL2RA was changed to BIALLELIC, autosomal or pseudoautosomal
17 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)IL2RA was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen