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 1.34	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 1.147	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 Level 2: Renal Version 1.28 Latest signed off version: v1.24 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Muckle-Wells syndrome, OMIM:191900 Renal amyloidosis
Green NLRP3 in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.18 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Immunology Version 8.88 Latest signed off version: v8.0 (30 Apr 2025)	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 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list UKGTN Phenotypes CINCA syndrome, OMIM:607115
Green NLRP3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes CINCA syndrome, OMIM:607115
Red NLRP3 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) 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 2: Renal Version 5.9 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes Muckle-Wells syndrome, OMIM:191900 Renal amyloidosis
Green NLRP3 in Autoinflammatory disorders Level 2: Immunology Version 2.35 Latest signed off version: v2.0 (1 May 2024)	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