This Panel is marked as Deleted
Kidneyome_SuperPanel_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 list
- Expert Review Green
- Phenotypes
-
- Muckle-Wells syndrome, MIM#191900
- OMIM
- 606416
- Clinvar variants
- Variants in NLRP3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Autoinflammatory disorders
- Monogenic hearing loss
- Intellectual disability
- Proteinuric renal disease
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Skeletal dysplasia
- Periodic fever syndromes
- Hereditary systemic amyloidosis
- Rare genetic inflammatory skin disorders
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NLRP3 was added gene: NLRP3 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 27435956; 28229991; PubMed: 11687797; 31057541 Phenotypes for gene: NLRP3 were set to Muckle-Wells syndrome, MIM#191900