Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: IL2RAEnsemblGeneIds (GRCh38): ENSG00000134460
EnsemblGeneIds (GRCh37): ENSG00000134460
OMIM: 147730, Gene2Phenotype
IL2RA is in 10 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added to the panel as red due to expert review - Only one case reported, but strong biological evidence.Created: 23 Aug 2016, 12:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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
- Expert Review
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)IL2RA was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)IL2RA was created by ellenmcdonagh