Skeletal dysplasia
Gene: IL1RN
Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Interleukin 1 receptor antagonist deficiency 612852
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. At least four variants reportedCreated: 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 reportedCreated: 29 Jul 2016, 9:58 a.m.
Comment on mode of inheritance: Monogenic inheritance for variant in Gastric cancer risk after H. pylori infection 137215Created: 29 Jul 2016, 9:53 a.m.
Tier 2Created: 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
Phenotypes for gene: IL1RN were changed from Interleukin 1 receptor antagonist deficiency 612852; Interleukin 1 receptor antagonist deficiency 612852 to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Added phenotypes Interleukin 1 receptor antagonist deficiency 612852 for gene: IL1RN
Source NHS GMS was added to IL1RN. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for IL1RN were set to Interleukin 1 receptor antagonist deficiency 612852
This gene has been classified as Green List (High Evidence).
Mode of inheritance for IL1RN was changed to BIALLELIC, autosomal or pseudoautosomal
IL1RN was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services
IL1RN was added to Unexplained skeletal dysplasiapanel. Sources:
IL1RN was created by sleigh