Periodic fever syndromes
Gene: NLRP3EnsemblGeneIds (GRCh38): ENSG00000162711
EnsemblGeneIds (GRCh37): ENSG00000162711
OMIM: 606416, Gene2Phenotype
NLRP3 is in 11 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)
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
-
- CINCA syndrome, OMIM:607115
- Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772
- Familial cold inflammatory syndrome 1, OMIM:120100
- Muckle-Wells syndrome, OMIM:191900
- OMIM
- 606416
- Clinvar variants
- Variants in NLRP3
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Proteinuric renal disease
- COVID-19 research
- Periodic fever syndromes
- Hereditary systemic amyloidosis
- Autoinflammatory disorders
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NLRP3 were changed from Hereditary Periodic Fever Syndromes; CINCA syndrome (NOMID), 607115; Familial cold-induced inflammatory syndrome 1 (FCAS), 120100; Muckle-Wells syndrome (MWS), 191900 to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for NLRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Added New Source
Ellen McDonagh (Genomics England Curator)NLRP3 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
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
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