NLRP3

NLR family pyrin domain containing 3
OMIM: 606416
PanelMode of inheritanceDetails
3 panels
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CINCA syndrome 607115, Muckle-Wells syndrome 191900, Familial cold autoinflammatory syndrome 1 120100, Deafness, autosomal dominant 34, with or without inflammation 617772, Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure, Autoinflammatory Disorders, Neonatal onset rash, chronic meningitis, and arthropathy with fever and inflammation, Urticaria, SNHL, amyloidosis
R-numbers: R332
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1, CINCA SYNDROME, FCAS1
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115, CINCA (Infantile-onset multisystem inflammatory disease) 607115