Gastrointestinal epithelial barrier disorders
Gene: MVKComment on list classification: Expert review and previous curation have suggested that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, this gene will be promoted to green.Created: 26 Jul 2018, 11:29 a.m.
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.
Phenotypes for gene: MVK were changed from Early Onset Inflammatory Bowel Disease; Hyper-IgD syndrome 260920; Mevalonic aciduria 610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Gene: mvk has been classified as Green List (High Evidence).
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 MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene MVK were set to Early Onset Inflammatory Bowel Disease, Hyper-IgD syndrome 260920, Mevalonic aciduria 610377
MVK was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
MVK was created by Olivia Niblock