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Severe Paediatric Disorders

Gene: IL1RN

Green List (high evidence)

IL1RN (interleukin 1 receptor antagonist)
EnsemblGeneIds (GRCh38): ENSG00000136689
EnsemblGeneIds (GRCh37): ENSG00000136689
OMIM: 147679, Gene2Phenotype
IL1RN is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: IL1RN; Recommended initial gene rating: Green List (high evidence); Phenotypes: Interleukin 1 receptor antagonist deficiency, 612852 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Interleukin 1 receptor antagonist deficiency, OMIM:612852
OMIM
147679
Clinvar variants
Variants in IL1RN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IL1RN were changed from Interleukin 1 receptor antagonist deficiency, 612852 to Interleukin 1 receptor antagonist deficiency, OMIM:6128