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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 12 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

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cold-induced autoinflammatory syndrome, familial, 120100
  • Coldinducedautoinflammatorysyndrome,familial,120100MuckleWellssyndrome,191900CINCAsyndrome,607115
OMIM
606416
Clinvar variants
Variants in NLRP3
Penetrance
Complete
Panels with this gene

History Filter Activity

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