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Skeletal dysplasia

Gene: IL1RN

Green List (high evidence)

IL1RN (interleukin 1 receptor antagonist)
EnsemblGeneIds (GRCh38): ENSG00000136689
EnsemblGeneIds (GRCh37): ENSG00000136689
OMIM: 147679, Gene2Phenotype
IL1RN is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD - >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interleukin 1 receptor antagonist deficiency 612852

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IL1RN; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. At least four variants reported
Created: 29 Jul 2016, 9:59 a.m.
Comment on phenotypes: Association with this gene in one patient with Gastric cancer risk after H. pylori infection 137215 and Microvascular complications of diabetes 4 612628 also reported
Created: 29 Jul 2016, 9:58 a.m.
Comment on mode of inheritance: Monogenic inheritance for variant in Gastric cancer risk after H. pylori infection 137215
Created: 29 Jul 2016, 9:53 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Sterile multifocal osteomyelitis with periostitis and pustulosis 612852; CINCA (Infantile-onset multisystem inflammatory disease) 607115

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Interleukin 1 receptor antagonist deficiency 612852
  • Interleukin 1 receptor antagonist deficiency 612852
OMIM
147679
Clinvar variants
Variants in IL1RN
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Interleukin 1 receptor antagonist deficiency 612852 for gene: IL1RN

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IL1RN. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IL1RN were set to Interleukin 1 receptor antagonist deficiency 612852

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for IL1RN was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

IL1RN was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

IL1RN was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IL1RN was created by sleigh