Skeletal dysplasia

Gene: NLRP3

Green List (high evidence)

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 Lester

Created: 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

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: NLRP3; Initial rating suggestion: green

Created: 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) 607115

Created: 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 191900

Created: 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 191900

Created: 29 Jul 2016, 8:36 a.m.

Green List (high evidence)

Tier 2

Created: 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