Familial hidradenitis suppurativa
Gene: MEFVEnsemblGeneIds (GRCh38): ENSG00000103313
EnsemblGeneIds (GRCh37): ENSG00000103313
OMIM: 608107, Gene2Phenotype
MEFV is in 8 panels
2 reviews
John McGrath (KCL)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Kept rating as red based on expert review, and insufficient evidence for disease causation.Created: 6 Jul 2017, 2:15 p.m.
The link between Mediterranean fever syndromes and hidradenitis suppurativa is unclear: PMID:28194777 describe 2 unrelated patients of Turkish descent with Familial Mediterranean fever (FMF) who had severe HS and PAPASH-like features. Both had M680I/V726A compound heterozygous MEFV mutations- the significance of these mutations is unknown, but PASH, PAPASH and FMF are diseases of the same pathway. PMID:27238193 report 6 patients (4 men, 2 women) with a proven FMF who displayed HS- the authors report that the association seems to be fortuitous, and therefore the link between FMF and HS (if any) is unknown.Created: 19 Jun 2017, 10:24 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Mediterranean fever with hidradenitis suppurativa
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
- OMIM
- 608107
- Clinvar variants
- Variants in MEFV
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MEFV were changed from Mediterranean fever with hidradenitis suppurativa; Familial Mediterranean fever, AD, 134610; Familial Mediterranean fever, AR, 249100 to Mediterranean fever with hidradenitis suppurativa; Familial Mediterranean fever, AD, OMIM:134610; Familial Mediterranean fever, AR, OMIM:249100
panel promoted to version 1
Rebecca Foulger (Genomics England curator)6th July 2017: Revised panel and promoted to Version 1.0 based on expert review. Although PSENEN, NCSTN and PSEN1 (all green genes on this panel) collectively only account for approximately 7% of all hidradenitis suppurativa (HS), there is insufficient evidence to promote any further genes to green at this time.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Created
Rebecca Foulger (Genomics England curator)MEFV was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)MEFV was added to Familial hidradenitis suppurativapanel. Sources: Literature