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Amyloidosis

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 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

one of complications of disorder is renal amyloidosis
Created: 27 Nov 2019, 10:45 p.m. | Last Modified: 27 Nov 2019, 10:45 p.m.
Panel Version: 0.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muckle-Wells syndrome

Publications

Created: 27 Nov 2019, 10:45 p.m.
Last Modified: 27 Nov 2019, 10:45 p.m.
Panel version: 0.0

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

History Filter Activity

27 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrp3 has been classified as Green List (High Evidence).

27 Nov 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome to Muckle-Wells syndrome, MIM#191900

27 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlrp3 has been classified as Green List (High Evidence).

27 Nov 2019, Gel status: 1

Set publications

Chirag Patel (Genetic Health Queensland)

Publications for gene NLRP3 were changed from PubMed: 11687797; 28229991; 27435956; 31057541 to PubMed: 11687797; 28229991; 27435956; 31057541

27 Nov 2019, Gel status: 1

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

Source KidGen_Amyloidosis v38.1.0 was removed from NLRP3. Source Expert list was added to NLRP3. Mode of inheritance for gene NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NLRP3 were changed from to Muckle-Wells syndrome

17 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NLRP3 was added gene: NLRP3 was added to Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0 Mode of inheritance for gene: NLRP3 was set to Unknown