NLRP3

NLR family pyrin domain containing 3
OMIM: 606416, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green NLRP3 in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.33	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Emory Genetics Laboratory Phenotypes CINCA syndrome, OMIM:607115 Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772 Familial cold inflammatory syndrome 1, OMIM:120100 Muckle-Wells syndrome, OMIM:191900
Green NLRP3 in COVID-19 research Level 2: Viral research Version 1.141	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes CINCA syndrome, OMIM:607115 Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772 Familial cold inflammatory syndrome 1, OMIM:120100 Muckle-Wells syndrome, OMIM:191900
Amber NLRP3 in Hereditary systemic amyloidosis Version 1.21 Latest signed off version: v1.18 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Muckle-Wells syndrome, OMIM:191900 Renal amyloidosis Tags for-review to_be_confirmed_NHSE
Green NLRP3 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CINCA syndrome, OMIM:607115 Muckle-Wells syndrome, OMIM:191900
Green NLRP3 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes CINCA syndrome, OMIM:607115 Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772 Familial cold inflammatory syndrome 1, OMIM:120100 Muckle-Wells syndrome, OMIM:191900
Green NLRP3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes CINCA syndrome, OMIM:607115
Red NLRP3 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen Phenotypes CINCA syndrome, OMIM:607115 Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772 Muckle-Wells syndrome, OMIM:191900
Red NLRP3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CINCA syndrome, OMIM:607115
Red NLRP3 in Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes Muckle-Wells syndrome, OMIM:191900 Renal amyloidosis
Green NLRP3 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes CINCA syndrome, OMIM:607115 Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772 Familial cold inflammatory syndrome 1, OMIM:120100 Muckle-Wells syndrome, OMIM:191900 Keratoendothelitis fugax hereditaria, OMIM:148200
Green NLRP3 in Autoinflammatory disorders Level 3: Primary immunodeficiency disorders Level 2: Haematological disorders Version 1.17 Latest signed off version: v1.0 (30 Nov 2022)	review	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