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  3. MEFV
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Gastrointestinal epithelial barrier 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

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Variants in this gene appear to be related to Familial Mediterranean Fever, which has been documented to have gastrointestinal presentations. With the literature evidence and the expert review, this gene will be promoted to green.
Created: 26 Jul 2018, 1:34 p.m.
Created: 26 Jul 2018, 1:34 p.m.

Panel version: 1.53

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

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.
Created: 5 Sep 2016, 7:52 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.57

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Familial Mediterranean fever, AD, OMIM:134610
  • Familial Mediterranean fever, AR, OMIM:249100
  • Early Onset Inflammatory Bowel Disease
OMIM
608107
Clinvar variants
Variants in MEFV
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MEFV were changed from Early Onset Inflammatory Bowel Disease; Familial Mediterranean fever, AD 134610; Familial Mediterranean fever, AR 249100 to Familial Mediterranean fever, AD, OMIM:134610; Familial Mediterranean fever, AR, OMIM:249100; Early Onset Inflammatory Bowel Disease

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: mefv has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 1

Set publications

Olivia Niblock (Genomics England Curator)

Publications for gene: MEFV were set to 19309279; 20890251; 23898394

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Set mode of inheritance, Set penetrance

Olivia Niblock (Genomics England Curator)

Model of inheritance for gene MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene MEFV were set to Early Onset Inflammatory Bowel Disease, Familial Mediterranean fever, AD 134610, Familial Mediterranean fever, AR 249100

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

MEFV was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

MEFV was created by Olivia Niblock