Periodic fever syndromes
Gene: MEFVEnsemblGeneIds (GRCh38): ENSG00000103313
EnsemblGeneIds (GRCh37): ENSG00000103313
OMIM: 608107, Gene2Phenotype
MEFV is in 8 panels
3 reviews
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Thought to be gain of function mutationsCreated: 2 Feb 2017, 11:37 a.m.
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green: Not yet a DD-confirmed gene but 1 Green review, included in Eligibility statement prior genetic testing. Plus >3 cases of biallelic FMF (OMIM:249100), many reported in single families by Bernot et al., 1998 (PMID:9668175) and >3 cases of monoallelic FMF (OMIM:134610), including 2 mutations in MEFV on the same allele: E148Q and M694I (Booth et al., 2000 PMID:10787449).Created: 16 Jan 2017, 11:02 a.m.
For autosomal dominant FMF (OMIM:134610) reduced penetrance (50 to 90% with several asymptomatic individuals carrying the mutation from the two families studied) is reported for the E148Q & M694I mutations (Booth et al., 2000 PMID:10787449). Incomplete penetrance is also reported for the 3bp deletion (2080ATG) which results in deletion of residue Met694.
Created: 16 Jan 2017, 10:50 a.m.
Comment on mode of inheritance: There are both monoallelic (OMIM:134610) and biallelic (OMIM:249100) forms of Famial Mediterranean Fever reported.Created: 16 Jan 2017, 10:41 a.m.
Tracy Briggs (Manchester Genomic Medicine Centre)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Phenotypes
-
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
- Neutrophilic dermatosis, acute febrile, OMIM:608068
- OMIM
- 608107
- Clinvar variants
- Variants in MEFV
- Penetrance
- Incomplete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Proteinuric renal disease
- COVID-19 research
- Gastrointestinal epithelial barrier disorders
- Periodic fever syndromes
- Familial hidradenitis suppurativa
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MEFV were changed from Hereditary Periodic Fever Syndromes; Familial Mediterranean Fever; Familial Mediterranean fever, AD, 134610; Familial Mediterranean fever, AR, 249100 to Familial Mediterranean fever, AD, OMIM:134610; Familial Mediterranean fever, AR, OMIM:249100; Neutrophilic dermatosis, acute febrile, OMIM:608068
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Set publications
Alice Gardham (Genomics England)Publications for MEFV were set to 9668175; 10787449; 21600797
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for MEFV was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for MEFV was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene MEFV were set to Hereditary Periodic Fever Syndromes; Familial Mediterranean Fever; Familial Mediterranean fever, AD, 134610; Familial Mediterranean fever, AR, 249100
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene MEFV were set to Hereditary Periodic Fever Syndromes; Familial Mediterranean Fever; Familial Mediterranean fever, AD, 134610; Familial Mediterranean fever, AR, 249100;
Added New Source
Ellen McDonagh (Genomics England Curator)MEFV was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)MEFV was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)MEFV was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory