COVID-19 research

Gene: GUCY2C

Red List (low evidence)

I do not see how this is related to immunodeficiency or viral host-pathogen interactions

Created: 10 Apr 2020, 7:21 a.m. | Last Modified: 10 Apr 2020, 7:21 a.m.

Panel Version: 0.81

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

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

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

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.