Rare genetic inflammatory skin disorders

Gene: NLRP3

Green List (high evidence)

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

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

Phenotypes
CINCA SYNDROME; CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1

Publications

Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:NLRP3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CINCA syndrome, OMIM:607115
  • Muckle-Wells syndrome, OMIM:191900
OMIM
606416
Clinvar variants
Variants in NLRP3
Penetrance
None
Publications
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 CINCA SYNDROME, OMIM:607115 to CINCA syndrome, OMIM:607115; Muckle-Wells syndrome, OMIM:191900

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NLRP3 were changed from CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME; FCAS1 to CINCA SYNDROME, OMIM:607115

12 Dec 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to NLRP3. Added phenotypes FCAS1; CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME for gene: NLRP3 Publications for gene NLRP3 were changed from to 11687797; 12032915 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: NLRP3 was added gene: NLRP3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown