Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: NLRP3

Green List (high evidence)

NLRP3 (NLR family pyrin domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000162711
EnsemblGeneIds (GRCh37): ENSG00000162711
OMIM: 606416, Gene2Phenotype
NLRP3 is in 10 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

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

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: NLRP3; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115
  • CINCA (Infantile-onset multisystem inflammatory disease) 607115
OMIM
606416
Clinvar variants
Variants in NLRP3
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115 for gene: NLRP3

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to NLRP3. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 Apr 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NLRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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 NLRP3 were set to CINCA (Infantile-onset multisystem inflammatory disease) 607115

29 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NLRP3 was changed to Unknown

29 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

NLRP3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NLRP3 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NLRP3 was created by sleigh