Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: IL1RNEnsemblGeneIds (GRCh38): ENSG00000136689
EnsemblGeneIds (GRCh37): ENSG00000136689
OMIM: 147679, Gene2Phenotype
IL1RN is in 8 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Remove gene from the panel.Created: 19 Oct 2015, 8:16 a.m.
Sian Ellard (University of Exeter Medical School)
no evidence that mutations cause monogenic diabetesCreated: 18 Oct 2015, 8:20 a.m.
Details
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Microvascular complications of diabetes 4}, OMIM:612628
- Tags
- OMIM
- 147679
- Clinvar variants
- Variants in IL1RN
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IL1RN were changed from {Gastric cancer risk after H. pylori infection}, 137215; {Microvascular complications of diabetes 4}, 612628; Interleukin 1 receptor antagonist deficiency, 612852; to {Microvascular complications of diabetes 4}, OMIM:612628
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: IL1RN.
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been removed from the panel.
Added New Source
Ellen McDonagh (Genomics England Curator)IL1RN was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen