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Primary immunodeficiency

Gene: GUCY2C

Amber List (moderate evidence)

GUCY2C (guanylate cyclase 2C)
EnsemblGeneIds (GRCh38): ENSG00000070019
EnsemblGeneIds (GRCh37): ENSG00000070019
OMIM: 601330, Gene2Phenotype
GUCY2C is in 9 panels

4 reviews

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

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

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

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • North West GLH
  • London North GLH
  • NHS GMS
  • GOSH PID v.8.0
Phenotypes
  • Diarrhea 6, 614616
  • meconium ileus, 614665
OMIM
601330
Clinvar variants
Variants in GUCY2C
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gucy2c has been classified as Amber List (Moderate Evidence).

25 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GUCY2C were changed from Diarrhea 6, 614616; meconium ileus to Diarrhea 6, 614616; meconium ileus, 614665

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to GUCY2C.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GUCY2C.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GUCY2C.

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gucy2c has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616; meconium ileus

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

19 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gucy2c has been classified as Red List (Low Evidence).

19 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616

19 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616; Meconium ileus

19 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

19 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616

19 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to GUCY2C. Panel: Primary immunodeficiency disorders

6 Apr 2018, Gel status: 1

Clear Sources

Louise Daugherty (Genomics England Curator)

GUCY2C Source: GOSH PID 20171152 was removed from gene: GUCY2C

6 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to GUCY2C. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GUCY2C was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171152

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

GUCY2C was created by Louise Daugherty