Autoinflammatory Disorders
Gene: NLRP3

NLRP3 (NLR family pyrin domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000162711
EnsemblGeneIds (GRCh37): ENSG00000162711
OMIM: 606416, Gene2Phenotype
NLRP3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with mono-allelic variants in this gene and autoinflammatory conditions of variable severity.
Created: 15 Oct 2022, 6:44 a.m. | Last Modified: 15 Oct 2022, 6:44 a.m.

Panel Version: 0.178

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial cold inflammatory syndrome 1, MIM# 120100; Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772; CINCA syndrome, MIM#12032915 607115

Publications

Created: 15 Oct 2022, 6:44 a.m.
Last Modified: 15 Oct 2022, 6:44 a.m.
Panel version: 0.178

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Familial cold inflammatory syndrome 1, MIM# 120100
Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772
CINCA syndrome, MIM#12032915 607115

OMIM

606416

Clinvar variants

Variants in NLRP3

Penetrance

None

Publications

Panels with this gene