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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 6 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Levy et al 2015: gen-phen correlation study. "Patients carrying rare NLRP3 variants are at risk of severe CAPS; onset before the age of 6 months is associated with more severe neurological involvement and hearing loss."

GOF mechanism, only missense and CNVs reported
Created: 1 Mar 2021, 12:33 a.m. | Last Modified: 1 Mar 2021, 12:33 a.m.
Panel Version: 0.6485

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Familial cold inflammatory syndrome 1, MIM#120100; Muckle-Wells syndrome, MIM#191900; CINCA syndrome, MIM#607115; Deafness, autosomal dominant 34, with or without inflammation, MIM#617772; Keratoendothelitis fugax hereditaria, MIM#148200

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • 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
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NLRP3 was added gene: NLRP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NLRP3 were set to Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115; CINCA (Infantile-onset multisystem inflammatory disease) 607115