Skeletal dysplasia
Gene: NLRP3
Previously called CIAS1. Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD - >3 cases with CINCA. Other phenotypes associated with this gene.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115
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: NLRP3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM but not in G2P. At least three variants reported in CINCA (Infantile-onset multisystem inflammatory disease) 607115Created: 29 Jul 2016, 8:38 a.m.
Comment on phenotypes: Variants also reported in Familial cold-induced inflammatory syndrome 1 120100 and Muckle-Wells syndrome 191900Created: 29 Jul 2016, 8:37 a.m.
Comment on mode of inheritance: Mode of inheritance in unknown for CINCA syndrome 607115, but monogenic for Familial cold-induced inflammatory syndrome 1 120100 and Muckle-Wells syndrome 191900Created: 29 Jul 2016, 8:36 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CINCA (Infantile-onset multisystem inflammatory disease) 607115; Familial cold-induced inflammatory syndrome 1 120100; Muckle-Wells syndrome 191900
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: NLRP3 were changed from Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115; CINCA (Infantile-onset multisystem inflammatory disease) 607115 to CINCA syndrome, OMIM:607115
Added phenotypes Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115 for gene: NLRP3
Source NHS GMS was added to NLRP3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for NLRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for NLRP3 were set to CINCA (Infantile-onset multisystem inflammatory disease) 607115
Mode of inheritance for NLRP3 was changed to Unknown
NLRP3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
NLRP3 was created by sleigh
NLRP3 was added to Unexplained skeletal dysplasiapanel. Sources: