Monogenic diabetes
Gene: IL2RAEnsemblGeneIds (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 Removed
- Tags
- OMIM
- 147730
- Clinvar variants
- Variants in IL2RA
- Penetrance
- None
- Publications
- 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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: IL2RA.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to IL2RA. Rating Changed from Red List (low evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set publications
Ellen McDonagh (Genomics England Curator)gene: IL2RA was added gene: IL2RA was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RA were set to 17196245