Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: GUCY2C
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
agree with all the Amber genesCreated: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115
The amber genes are covered on our targeted exome, we feel that these should be covered in the testingCreated: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114
agree this is not an immunodeficiency stateCreated: 29 Jun 2018, 8:45 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
meconium ileus; diarrhoea 6
AD: diarrhoea 6, relatively mild with potential IBD association one family ?GOF, vs AR: meconium ileus, one family. ?Phenotypic relevance and also amber on associationCreated: 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 GroupCreated: 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 AmberCreated: 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 deficiencyCreated: 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.
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)
Gene: gucy2c has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GUCY2C were changed from Diarrhea 6, 614616; meconium ileus to Diarrhea 6, 614616; meconium ileus, 614665
Source North West GLH was added to GUCY2C.
Source London North GLH was added to GUCY2C.
Source NHS GMS was added to GUCY2C.
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.
Gene: gucy2c has been classified as Red List (Low Evidence).
Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616; meconium ileus
Mode of inheritance for gene: GUCY2C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: gucy2c has been classified as Red List (Low Evidence).
Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616
Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616; Meconium ileus
Mode of inheritance for gene: GUCY2C was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616
Phenotypes for gene: GUCY2C were set to Diarrhea 6, 614616
Expert Review Amber was added to GUCY2C. Panel: Primary immunodeficiency disorders
GUCY2C Source: GOSH PID 20171152 was removed from gene: GUCY2C
GOSH PID v.8.0 was added to GUCY2C. Panel: Primary immunodeficiency disorders
GUCY2C was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171152
GUCY2C was created by Louise Daugherty