Periodic fever syndromes

Gene: MEFV

Green List (high evidence)

MEFV (MEFV, pyrin innate immunity regulator)
EnsemblGeneIds (GRCh38): ENSG00000103313
EnsemblGeneIds (GRCh37): ENSG00000103313
OMIM: 608107, Gene2Phenotype
MEFV is in 9 panels

3 reviews

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Thought to be gain of function mutations
Created: 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)

Green List (high evidence)

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
  • Hereditary Periodic Fever Syndromes
  • Familial Mediterranean Fever
  • Familial Mediterranean fever, AD, 134610
  • Familial Mediterranean fever, AR, 249100
OMIM
608107
Clinvar variants
Variants in MEFV
Penetrance
Incomplete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

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.

2 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for MEFV were set to 9668175; 10787449; 21600797

2 Feb 2017, Gel status: 4

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for MEFV was changed to Other - please provide details in the comments

30 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for MEFV was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Jan 2017, Gel status: 1

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

12 Jan 2017, Gel status: 1

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;

12 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MEFV was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing

15 Jul 2015, Gel status: 1

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

15 Jul 2015, Gel status: 0

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