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  3. MEFV
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Proteinuria

Gene: MEFV

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 27956278 - p.Met694Ile single variant in the homozygous state has been reported as enriched within individuals with renal amyloidosis and FMF.
Sources: Literature
Created: 28 Sep 2022, 9:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial Mediterranean fever MIM#134610; Familial Mediterranean fever MIM#249100; Neutrophilic dermatosis, acute febrile MIM#608068

Publications

Mode of pathogenicity
Other

Created: 28 Sep 2022, 9:37 p.m.

Panel version: 0.209

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established association. Predominantly bi-allelic, though a limited range of heterozygous variants have been associated with disease.
Created: 18 May 2022, 5:54 a.m. | Last Modified: 18 May 2022, 5:54 a.m.
Panel Version: 0.14465

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Familial Mediterranean fever MIM# 249100

Created: 18 May 2022, 5:54 a.m.
Last Modified: 18 May 2022, 5:54 a.m.
Panel version: Imported from Mendeliome panel version 0.14465

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial Mediterranean fever MIM#134610
  • Familial Mediterranean fever MIM#249100
  • Neutrophilic dermatosis, acute febrile MIM#608068
OMIM
608107
Clinvar variants
Variants in MEFV
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mefv has been classified as Amber List (Moderate Evidence).

28 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mefv has been classified as Amber List (Moderate Evidence).

28 Sep 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Elena Savva (Victorian Clinical Genetics Services)

gene: MEFV was added gene: MEFV was added to Proteinuria. Sources: Literature Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEFV were set to PMID: 27956278 Phenotypes for gene: MEFV were set to Familial Mediterranean fever MIM#134610; Familial Mediterranean fever MIM#249100; Neutrophilic dermatosis, acute febrile MIM#608068 Mode of pathogenicity for gene: MEFV was set to Other Review for gene: MEFV was set to AMBER