Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: HPS1
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
Not a particularly immunologic presentation recorded for HPS1 patientsCreated: 29 Jun 2018, 9:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome; oculocutaneous albinism; bleeding; inflammatory bowel disease; pulmonary fibrosis
Publications
Hermansky-Pudlak - OCA, bleeding, lysosomal ceroid storage: green association, phenotypeCreated: 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 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, 5:04 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
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, 4:01 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: hps1 has been classified as Green List (High Evidence).
Source NHS GMS was added to HPS1.
Source North West GLH was added to HPS1.
Source London North GLH was added to HPS1.
Publications for gene: HPS1 were set to
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: hps1 has been classified as Red List (Low Evidence).
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1; oculocutaneous albinism; bleeding; inflammatory bowel disease; pulmonary fibrosis
Gene: hps1 has been classified as Red List (Low Evidence).
Expert Review Amber was added to HPS1. Panel: Primary immunodeficiency disorders
HPS1 Source: GOSH PID 20171153 was removed from gene: HPS1
GOSH PID v.8.0 was added to HPS1. Panel: Primary immunodeficiency disorders
HPS1 was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171153
HPS1 was created by Louise Daugherty