Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: GUCY2C

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been confirmed for this panel by the NHS Genomic Medicine Service as the eligibility criteria of R15 has been extended to include IBD genes and should be rated green.
Created: 8 Mar 2022, 3:09 p.m. | Last Modified: 8 Mar 2022, 3:09 p.m.

Panel Version: 2.536

Created: 8 Mar 2022, 3:09 p.m.
Last Modified: 8 Mar 2022, 3:09 p.m.
Panel version: 2.536

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

agree with all the Amber genes
Created: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.

Panel Version: 1.115

Created: 25 Sep 2019, 1:49 p.m.
Last Modified: 25 Sep 2019, 1:49 p.m.
Panel version: 1.115

Tracy Briggs (Manchester Genomic Medicine Centre)

I don't know

The amber genes are covered on our targeted exome, we feel that these should be covered in the testing
Created: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.

Panel Version: 1.114

Created: 25 Sep 2019, 1:44 p.m.
Last Modified: 25 Sep 2019, 1:44 p.m.
Panel version: 1.114

Sophie Hambleton (Newcastle University)

Red List (low evidence)

agree this is not an immunodeficiency state
Created: 29 Jun 2018, 8:45 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
meconium ileus; diarrhoea 6

Created: 29 Jun 2018, 8:45 p.m.

Panel version: 0.1371

Louise Daugherty (Genomics England Curator)

I don't know

AD: diarrhoea 6, relatively mild with potential IBD association one family ?GOF, vs AR: meconium ileus, one family. ?Phenotypic relevance and also amber on association
Created: 26 Sep 2019, 3:54 p.m. | Last Modified: 26 Sep 2019, 3:54 p.m.

Panel Version: 1.130

Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Created: 25 Sep 2019, 3:08 p.m. | Last Modified: 25 Sep 2019, 3:08 p.m.

Panel Version: 1.119

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.

Panel Version: 1.116

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.

Panel Version: 1.116

Comment on list classification: Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panel until further evidence.
Created: 19 Jun 2018, 3:57 p.m.

Not relevant to PID panel- this gene is Green on Infantile enterocolitis & monogenic inflammatory bowel disease panel for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Created: 19 Jun 2018, 3:54 p.m.

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.

Created: 20 Apr 2018, 12:25 p.m.

Panel version: 1.130

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
North West GLH
London North GLH
NHS GMS
GOSH PID v.8.0

Phenotypes

Diarrhea 6, 614616
meconium ileus, 614665
Diarrhea 6, OMIM:614616

OMIM

601330

Clinvar variants

Variants in GUCY2C

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GUCY2C. Mode of inheritance for gene GUCY2C was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diarrhea 6, OMIM:614616 for gene: GUCY2C Publications for gene: GUCY2C were updated from to 22436048; 31157858 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Sep 2019, Gel status: 2