This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Muckle-Wells syndrome, MIM#191900
- OMIM
- 606416
- Clinvar variants
- Variants in NLRP3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Autoinflammatory disorders
- Proteinuric renal disease
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Periodic fever syndromes
- Hereditary systemic amyloidosis
- Intellectual disability
- Rare genetic inflammatory skin disorders
- Monogenic hearing loss
- Fetal anomalies
History Filter Activity
24 Dec 2019, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Muckle-Wells syndrome, MIM#191900 for gene: NLRP3
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NLRP3 was added gene: NLRP3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 31057541; 28229991; PubMed: 11687797; 27435956 Phenotypes for gene: NLRP3 were set to Muckle-Wells syndrome, MIM#191900