Periodic fever syndromes
Gene: NLRP3The 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NLRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
NLRP3 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
NLRP3 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory
NLRP3 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory