Periodic fever syndromes
Gene: IL1RNEnsemblGeneIds (GRCh38): ENSG00000136689
EnsemblGeneIds (GRCh37): ENSG00000136689
OMIM: 147679, Gene2Phenotype
IL1RN is in 8 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: The Royal Free Periodic Fever Service class IL-1 receptor antagonist deficiency as an inherited fever syndromeCreated: 2 Feb 2017, 10:44 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Interleukin 1 receptor antagonist deficiency, OMIM:612852
- OMIM
- 147679
- Clinvar variants
- Variants in IL1RN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IL1RN were changed from Interleukin 1 receptor antagonist deficiency, 612852; OMPP; DIRA syndrome; recurrent fever to Interleukin 1 receptor antagonist deficiency, OMIM:612852
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Set publications
Alice Gardham (Genomics England)Publications for IL1RN were set to 19494218
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Rebecca Foulger (Genomics England curator)IL1RN was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)IL1RN was added to Periodic fever syndromespanel. Sources: Other