Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: MVK
Associated with phenotype in OMIM, not in G2P / DD. Present on Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reported.
Created: 5 Sep 2016, 8:02 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.
MVK was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Phenotypes for gene MVK were set to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377
MVK was created by ellenmcdonagh
MVK was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list