Proteinuric renal disease
Gene: MEFV
MEFV (MEFV, pyrin innate immunity regulator)
EnsemblGeneIds (GRCh38): ENSG00000103313
EnsemblGeneIds (GRCh37): ENSG00000103313
OMIM: 608107, Gene2Phenotype
MEFV is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000103313
EnsemblGeneIds (GRCh37): ENSG00000103313
OMIM: 608107, Gene2Phenotype
MEFV is in 8 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: MEFV; Suggested initial gene rating: amber; Evidence for inclusion: none provided; Other comments: Multiple reports of gene associated with period fever syndromes and on aplicable panelAPP panel for this. Proteinuria part of this syndrome, but unclear whether it should be included in the proteinuric panel.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial Mediterranean fever, AR #249100
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
- OMIM
- 608107
- Clinvar variants
- Variants in MEFV
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Proteinuric renal disease
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Periodic fever syndromes
- Familial hidradenitis suppurativa
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
History Filter Activity
10 Jan 2022, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MEFV were changed from Familial Mediterranean fever, AR #249100 to Familial Mediterranean fever, AD, OMIM:134610; Familial Mediterranean fever, AR, OMIM:249100
23 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MEFV were changed from to Familial Mediterranean fever, AR #249100
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: MEFV was added gene: MEFV was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: MEFV was set to