Genomics England
GMS Panels
Panels
Genes and Entities

NLRC4

NLR family CARD domain containing 4
OMIM: 606831
PanelMode of inheritanceDetails
2 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autoinflammation with infantile enterocolitis, OMIM:616050, ?Familial cold autoinflammatory syndrome 4, OMIM:616115
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autoinflammation with infantile enterocolitis, OMIM:616050, ?Familial cold autoinflammatory syndrome 4, OMIM:616115, Severe enterocolitis and macrophage activation syndrome, Autoinflammatory Disorders