Genomics England
GMS Panels
Panels
Genes and Entities

MEFV

MEFV, pyrin innate immunity regulator
OMIM: 608107
PanelMode of inheritanceDetails
2 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
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
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
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