Research panel - Severe Paediatric Disorders
Gene: NLRP3

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NLRP3; Recommended initial gene rating: Green List (high evidence); Phenotypes: CINCA syndrome, 607115 (3) | Deafness, autosomal dominant 34, with or without inflammation, 617772 (3) | Familial cold inflammatory syndrome 1, 120100 (3) | Keratoendothelitis fugax hereditaria, 148200 (3) | Muckle-Wells syndrome, 191900 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

606416

Clinvar variants

Variants in NLRP3

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NLRP3 were changed from Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900; Keratoendothelitis fugax hereditaria, OMIM:148200

20 Feb 2020, Gel status: 3