COVID-19 research
Gene: HPS4
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Hermansky-Pudlak - OCA, bleeding, lysosomal ceroid storage: green association, phenotypeCreated: 26 Sep 2019, 3:55 p.m. | Last Modified: 26 Sep 2019, 3:55 p.m.
Panel Version: 1.130
Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (London North GLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 5:08 p.m. | Last Modified: 17 Sep 2019, 5:11 p.m.
Panel Version: 1.99
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 enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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, 4:02 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.
gene: HPS4 was added gene: HPS4 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073