Skeletal dysplasia

Gene: IL1RN

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

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.

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.

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