Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: GUCY2CComment 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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GUCY2C was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for GUCY2C was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for GUCY2C were set to Familial Diarrhea 6 614616
Phenotypes for gene GUCY2C were set to Familial Diarrhea 6 614616
GUCY2C was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene GUCY2C were set to Familial Diarrhea 6 614616 (AD); Meconium ileus 614665 (AR)
GUCY2C was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
GUCY2C was created by ellenmcdonagh