Gene Symbol:
NLRP3
HGNC:16400
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q44
Filters:

Ambry Genetics classifications

keratitis fugax hereditaria
Submitted as: OMIM:148200
AD
01/29/2018
Evaluated
12/24/2020
Submitted

Genomics England PanelApp classifications

CINCA syndrome
Submitted as: OMIM:607115
AD
10/15/2020
Evaluated
03/31/2021
Submitted

Orphanet classifications

Muckle-Wells syndrome
Submitted as: Orphanet:575
AD
09/14/2021
Evaluated
09/14/2021
Submitted
CINCA syndrome
Submitted as: Orphanet:1451
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial cold autoinflammatory syndrome
Submitted as: Orphanet:47045
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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