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Monogenic hearing loss

Gene: NLRP3

Red List (low evidence)
NLRP3 (NLR family pyrin domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000162711
EnsemblGeneIds (GRCh37): ENSG00000162711
OMIM: 606416, Gene2Phenotype
NLRP3 is in 11 panels

1 review

Jun Shen (Harvard Medical School)

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

Phenotypes
#120100:Familial cold-induced inflammatory syndrome 1[Conjunctivitis; Renal amyloidosis, late-onset (uncommon); Arthralgia, episodic; Maculopapular rash, episodicRash may or may not be pruritic; Myalgia, episodicSwelling of the extremities, episodic; Headache, episodic; Fever, episodic; Polymorphonuclear leukocytosis, episodicIncreased serum C-reactive protein, episodic]; #191900:Muckle-Wells syndrome[Sensorineural deafness, progressive, late-onset; Conjunctivitis, episodic; Aphthous ulcers; Renal amyloidosis, late-onsetRenal failure; Arthralgia, episodic; Lower extremity pain; Maculopapular rash, episodicRash may or may not be pruritic; Myalgia, episodic; Fever, episodic; Polymorphonuclear leukocytosis, episodicIncreased IL6, episodic; Polymorphonuclear leukocytosis, episodicIncreased erythrocyte sedimentation rate, episodicIncreased IL6, episodic]; #607115:CINCA syndrome[<omim version=1.0><clinicalSynopsisList>]

Publications

Created: 7 Feb 2016, 9:01 a.m.

Panel version: 0.105

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CINCA syndrome, OMIM:607115
  • Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772
  • Muckle-Wells syndrome, OMIM:191900
OMIM
606416
Clinvar variants
Variants in NLRP3
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NLRP3 were changed from Cold-induced autoinflammatory syndrome, familial, 120100; Coldinducedautoinflammatorysyndrome,familial,120100MuckleWellssyndrome,191900CINCAsyndrome,607115 to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Muckle-Wells syndrome, OMIM:191900

10 Jan 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: NLRP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NLRP3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen