Periodic fever syndromes

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

2 reviews

Rebecca Foulger (Genomics England curator)

The Cryopyrin-Associated Periodic syndromes (CAPS) includes three subtypes:
-CINCA syndrome (OMIM:607115, also known as 'neonatal onset multisystem inflammatory disease'/NOMID),
-Familial cold autoinflammatory syndrome (OMIM:120100, FCAS) and
-Muckle-Wells syndrome (OMIM:191900).
All three disorders manifest with recurrent fever and can be caused by mutations in NLRP3.
Created: 16 Jan 2017, 11:39 a.m.
Comment on list classification: Updated rating from Red to green: 1 Green review and NLRP3 is included in Eligibility statement prior genetic testing list. Not a confirmed DD gene, but >3 cases of NLRP3 mutations causing a Cryopyrin Associated Periodic Syndrome (CAPS).
Created: 16 Jan 2017, 11:39 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 16 Jan 2017, 11:37 a.m.

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
Phenotypes
  • Hereditary Periodic Fever Syndromes
  • CINCA syndrome (NOMID), 607115
  • Familial cold-induced inflammatory syndrome 1 (FCAS), 120100
  • Muckle-Wells syndrome (MWS), 191900
OMIM
606416
Clinvar variants
Variants in NLRP3
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

30 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

16 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene NLRP3 were set to Hereditary Periodic Fever Syndromes; CINCA syndrome (NOMID), 607115; Familial cold-induced inflammatory syndrome 1 (FCAS), 120100; Muckle-Wells syndrome (MWS), 191900

12 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP3 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP3 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP3 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory