Genomics England
GMS Panels
Panels
Genes and Entities

NLRP12

NLR family pyrin domain containing 12
OMIM: 609648
PanelMode of inheritanceDetails
2 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial cold autoinflammatory syndrome 2, OMIM:611762
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial cold autoinflammatory syndrome 2, OMIM:611762, Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure, Preterm premature rupture of membranes (PPROM), Autoinflammatory Disorders