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  3. GUCY2C
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Gastrointestinal epithelial barrier disorders

Gene: GUCY2C

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

4 reviews

Olivia Niblock (Genomics England Curator)

Comment 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 green
Created: 26 Jul 2018, 10:24 a.m.
Created: 26 Jul 2018, 10:24 a.m.

Panel version: 1.8

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: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.133

Neil shah (GOSH)

Green List (high evidence)

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

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease 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: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.91

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 6, 614616
OMIM
601330
Clinvar variants
Variants in GUCY2C
Penetrance
None
Panels with this gene

History Filter Activity

26 Jul 2018, Gel status: 3

Set mode of inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for gene: GUCY2C was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: gucy2c has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

Expert list was added to GUCY2C. Panel: Gastrointestinal epithelial barrier disorders

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

GUCY2C was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

GUCY2C was created by Olivia Niblock