Periodic fever syndromes
Gene: MEFVComment on mode of pathogenicity: Thought to be gain of function mutationsCreated: 2 Feb 2017, 11:37 a.m.
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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.
Publications for MEFV were set to 9668175; 10787449; 21600797
Mode of pathogenicity for MEFV was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MEFV was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene MEFV were set to Hereditary Periodic Fever Syndromes; Familial Mediterranean Fever; Familial Mediterranean fever, AD, 134610; Familial Mediterranean fever, AR, 249100
Phenotypes for gene MEFV were set to Hereditary Periodic Fever Syndromes; Familial Mediterranean Fever; Familial Mediterranean fever, AD, 134610; Familial Mediterranean fever, AR, 249100;
MEFV was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
MEFV was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory
MEFV was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory