Proteinuric renal disease
Gene: NLRP3
NLRP3 (NLR family pyrin domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000162711
EnsemblGeneIds (GRCh37): ENSG00000162711
OMIM: 606416, Gene2Phenotype
NLRP3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000162711
EnsemblGeneIds (GRCh37): ENSG00000162711
OMIM: 606416, Gene2Phenotype
NLRP3 is in 11 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: NLRP3; Suggested initial gene rating: red; Evidence for inclusion: PMID: 30431487; Other comments: Abstract not available: AA amyloidosis in a child who presented with SRNS(Nephrotic syndrome as the presenting feature of amyloidosis in the absence of systemic inflammatory features; mutation in the exon 3 of NLRP3 gene: c.1055C>T;p.Ala352Val)Created: 4 Feb 2019, 10:41 a.m.
Phenotypes
SRNS
Publications
- PMID: 30431487
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Phenotypes
-
- Muckle-Wells syndrome, OMIM:191900
- Renal amyloidosis
- OMIM
- 606416
- Clinvar variants
- Variants in NLRP3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Monogenic hearing loss
- Fetal anomalies
- Proteinuric renal disease
- COVID-19 research
- Skeletal dysplasia
- Periodic fever syndromes
- Hereditary systemic amyloidosis
- Autoinflammatory disorders
History Filter Activity
10 Jan 2022, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: NLRP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Jan 2022, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NLRP3 were changed from SRNS to Muckle-Wells syndrome, OMIM:191900; Renal amyloidosis
24 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NLRP3 were changed from to SRNS
24 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NLRP3 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: NLRP3 was added gene: NLRP3 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NLRP3 was set to