Intestinal failure or congenital diarrhoea
Gene: GUCY2CThis gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 24 Jan 2019, 4:36 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: GUCY2C; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 8 Jan 2019, 10:52 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.
Phenotypes for gene: GUCY2C were changed from Familial Diarrhea 6 614616 to Familial Diarrhea 6, OMIM:614616
Phenotypes for gene: GUCY2C were changed from Familial Diarrhea 6 614616 to Familial Diarrhea 6 614616
Gene: gucy2c has been classified as Green List (High Evidence).
Source Other was added to GUCY2C. Mode of inheritance for gene GUCY2C was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene GUCY2C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Familial Diarrhea 6 614616 for gene: GUCY2C Publications for gene GUCY2C were changed from to 22521417; 22436048; 25994218
Source Expert Review Green was added to GUCY2C. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GUCY2C was added gene: GUCY2C was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: GUCY2C was set to