Infantile enterocolitis & monogenic inflammatory bowel disease

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

2 reviews

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P / DD. Present in Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Fourteen variants reported Familial Mediterranean fever (biallelic) and three in Familial Mediterranean fever (autosomal dominant),
Created: 5 Sep 2016, 7:52 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100
OMIM
608107
Clinvar variants
Variants in MEFV
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

5 Sep 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene MEFV were set to Familial Mediterranean fever, AD 134610; Familial Mediterranean fever, AR 249100

5 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

MEFV was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MEFV was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MEFV was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list