Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: GUCY2C

GUCY2C (guanylate cyclase 2C)
EnsemblGeneIds (GRCh38): ENSG00000070019
EnsemblGeneIds (GRCh37): ENSG00000070019
OMIM: 601330, Gene2Phenotype
GUCY2C is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

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.

Created: 12 Oct 2016, 9 a.m.

Panel version: 0.133

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: 0.122

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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 biallelic
Created: 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.

Created: 6 Sep 2016, 7:16 a.m.

Panel version: 0.91

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN
Expert list

Phenotypes

Familial Diarrhea 6 614616

OMIM

601330

Clinvar variants

Variants in GUCY2C

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Sep 2016, Gel status: 2