Gastrointestinal epithelial barrier disorders
Gene: MEFVComment 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.
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.
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
Gene: mefv has been classified as Green List (High Evidence).
Publications for gene: MEFV were set to 19309279; 20890251; 23898394
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
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
MEFV was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
MEFV was created by Olivia Niblock