Autoinflammatory Disorders
Gene: MEFV

MEFV (MEFV, pyrin innate immunity regulator)
EnsemblGeneIds (GRCh38): ENSG00000103313
EnsemblGeneIds (GRCh37): ENSG00000103313
OMIM: 608107, Gene2Phenotype
MEFV is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association between mono-allelic and bi-allelic variants in MEFV and FMF is well established. Note reports of autoinflammatory disorder characterized by onset of recurrent fever and dermatologic abnormalities in childhood in four families. Laboratory studies show elevated acute phase reactants and activation of the inflammatory response, particularly IL1B. Additional more variable features may include myalgia and arthralgia. Several had recurrent variant, S242R, and one family had nearby variant, E244K.
Created: 14 Jun 2020, 7:37 a.m. | Last Modified: 14 Jun 2020, 7:37 a.m.

Panel Version: 0.80

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Familial Mediterranean fever, AD, MIM# 134610; Familial Mediterranean fever, AR, MIM# 249100; Neutrophilic dermatosis, MIM#608068

Publications

Created: 14 Jun 2020, 7:37 a.m.
Last Modified: 14 Jun 2020, 7:37 a.m.
Panel version: 0.80

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Familial Mediterranean fever, AD, MIM# 134610
Familial Mediterranean fever, AR, MIM# 249100
Neutrophilic dermatosis, MIM#608068

OMIM

608107

Clinvar variants

Variants in MEFV

Penetrance

None

Publications

Panels with this gene