MEFV |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MEFV (HGNC:6998) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- MEFV innate immunity regulator, pyrin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MEF
- Alias symbols
- FMF, TRIM20
- %HI
- 81.61(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.15(Read more about gnomAD LOEUF score)
- Cytoband
- 16p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr16:3292027-3306633 NCBI Ensembl UCSC GRCh38/hg38: chr16:3242027-3256633 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000243.3 ENST00000219596.6 (Read more about MANE Select)
- Function
- Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:16037825, PubMed:27030597, PubMed:28835462, PubMed:16785446, PubMed:17431422, PubMed:26347139). Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinat... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24503
ClinGen Curation ID:
CCID:007450
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/16/2018
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
MEFV (Mediterranean Fever gene) is associated with Familial Mediterranean fever (FMF), an autosomal recessive/autosomal dominant hereditary periodic fever syndrome. FMF is usually inherited in an autosomal recessive manner although heterozygous carriers of pathogenic MEVF variants are also sometimes affected by classical or mild FMF.
Whole gene deletions and nonsense variants in MEVF have not been reported as a cause of FMF. Pathogenic MEVF variants are usually missense, although some small deletions and insertions have also been reported (MEFV database, HGMD). Two of these variants are predicted to cause a frameshift (Oztuzcu et al. 2014, Dogan et al. 2014); although one of these variants is near the end of the protein and the encoded product is unlikely to be targeted for nonsense-mediated decay. It has been proposed that the periodic nature of inflammatory attacks in FMF is consistent with a protein that functions adequately at steady state but decompensates under stress (International FMF Consortium 1997), acting via a gain-of-function type mechanism of pathogenicity.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)