MEFV

MEFV, pyrin innate immunity regulator
OMIM: 608107
PanelMode of inheritanceDetails
2 panels
R-numbers: R413
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Familial Mediterranean fever, AR, OMIM:249100, Neutrophilic dermatosis, acute febrile, OMIM:608068, Familial Mediterranean fever, AD, OMIM:134610
R-numbers: R15
Signed-off version 3.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Familial Mediterranean fever, AD, OMIM:134610, Familial Mediterranean fever, AR, OMIM:249100, Neutrophilic dermatosis, acute febrile, OMIM:608068, Recurrent fever, serositis and inflammation responsive to colchicine, Predisposes to vasculitis and inflammatory bowel disease, Autoinflammatory Disorders