Proteinuria
Gene: MEFV
PMID: 27956278 - p.Met694Ile single variant in the homozygous state has been reported as enriched within individuals with renal amyloidosis and FMF.
Sources: LiteratureCreated: 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
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
Gene: mefv has been classified as Amber List (Moderate Evidence).
Gene: mefv has been classified as Amber List (Moderate Evidence).
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