Gastrointestinal epithelial barrier disorders
Gene: DCLRE1CComment on list classification: Expert review and previous curation have highlighted that variants in this gene appear to be linked with the presentation of gastrointestinal phenotypes, specifically those presented in Ommen syndrome. Therefore, this gene will be promoted to green.Created: 26 Jul 2018, 11:46 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Eight variants reported in SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION, one in SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE, two in SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL and two in OMENN SYNDROMECreated: 5 Sep 2016, 6:49 a.m.
Gene: dclre1c 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
Phenotypes for gene DCLRE1C were set to Early Onset Inflammatory Bowel Disease, Omenn syndrome 603554, Severe combined immunodeficiency, Athabascan type 602450
DCLRE1C was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
DCLRE1C was created by Olivia Niblock