Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: MEFV
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Model of inheritance for gene MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene MEFV were set to Familial Mediterranean fever, AD 134610; Familial Mediterranean fever, AR 249100
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
MEFV was created by ellenmcdonagh
MEFV was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list