NLRP3

NLR family pyrin domain containing 3
OMIM: 606416
PanelMode of inheritanceDetails
4 panels
R-numbers: R413
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
R-numbers: R15
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
R-numbers: R332
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CINCA syndrome, OMIM:607115, Muckle-Wells syndrome, OMIM:191900
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CINCA syndrome, OMIM:607115