1. Panels
  2. Autoinflammatory disorders
  3. MEFV
STRs in panel
Prev Next
Regions in panel
Prev Next

Autoinflammatory disorders

Gene: MEFV

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Created: 16 Feb 2022, 11:44 a.m.
Last Modified: 16 Feb 2022, 11:44 a.m.
Panel version: 0.36

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Familial Mediterranean fever, AR, OMIM:249100
  • Neutrophilic dermatosis, acute febrile, OMIM:608068
  • Familial Mediterranean fever, AD, OMIM:134610
OMIM
608107
Clinvar variants
Variants in MEFV
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to MEFV.

11 Jan 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: MEFV was added gene: MEFV was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MEFV were set to 27030597; 9288094; 28835462; 14679589; 9288758; 10787449 Phenotypes for gene: MEFV were set to Familial Mediterranean fever, AR, OMIM:249100; Neutrophilic dermatosis, acute febrile, OMIM:608068; Familial Mediterranean fever, AD, OMIM:134610