Gastrointestinal epithelial barrier disorders
Gene: GUCY2CComment on list classification: With the expert review, previous curation and additional evidence linking variants in this gene to both AD Diarrhea and AR Meconium Ileus, this gene is being promoted to greenCreated: 26 Jul 2018, 10:24 a.m.
Comment on list classification: Rated green by expert reviewer plus evidence from publications. Promoted from amber to green.Created: 12 Oct 2016, 9 a.m.
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Five monogenic variants reported.
Created: 6 Sep 2016, 7:16 a.m.
Comment on mode of inheritance: Meconium ileus 614665 is biallelicCreated: 6 Sep 2016, 7:14 a.m.
Comment on mode of pathogenicity: Gain of function variants responsible for elevated intracellular cyclic guanosine monophosphate levels and could explain the chronic diarrhoea as a result of decreased intestinal sodium and water absorption and increased chloride secretion (PMID 25994218)Created: 6 Sep 2016, 7:12 a.m.
Comment on phenotypes: Also associated with Meconium ileus 614665 (AR)Created: 6 Sep 2016, 7:12 a.m.
Mode of inheritance for gene: GUCY2C was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: gucy2c 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
Expert list was added to GUCY2C. Panel: Gastrointestinal epithelial barrier disorders
GUCY2C was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen
GUCY2C was created by Olivia Niblock