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  3. NLRP3
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Autoinflammatory 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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Created: 16 Feb 2022, 11:44 a.m.
Last Modified: 16 Feb 2022, 11:44 a.m.
Panel version: 0.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772
  • Familial cold inflammatory syndrome 1, OMIM:120100
  • Muckle-Wells syndrome, OMIM:191900
  • CINCA syndrome, OMIM:607115
OMIM
606416
Clinvar variants
Variants in NLRP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to NLRP3.

11 Jan 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: NLRP3 was added gene: NLRP3 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NLRP3 were set to 11687797; 18423104; 11992256; 14872505; 29366613; 11590390; 12032915; 12522564; 28847925 Phenotypes for gene: NLRP3 were set to Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900; CINCA syndrome, OMIM:607115