Familial 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
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added to the panel as red due to expert review.Created: 15 Jun 2016, 3:30 p.m.
Sian Ellard (University of Exeter Medical School)
Only one case reported, but strong biological evidenceCreated: 16 Oct 2015, 10:09 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- 147730
- Clinvar variants
- Variants in IL2RA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multi-organ autoimmune diabetes
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Familial diabetes
- Neonatal diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Familial Meniere Disease
History Filter Activity
11 Feb 2021, Gel status: 1
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Removed was removed from gene: IL2RA
15 Jun 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).
16 Oct 2015, Gel status: 0
Added New Source
Sian Ellard (University of Exeter Medical School)IL2RA was added to Familial diabetespanel. Sources: Expert Review