Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: GTF2H5
Trichothiodystrophy: green association (3 unrelated cases), ?phenotype relevant: recurrent infective exacerbations of asthmaCreated: 26 Sep 2019, 3:54 p.m. | Last Modified: 26 Sep 2019, 3:54 p.m.
Panel Version: 1.130
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 RedCreated: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
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 RedCreated: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
Source London North GLH was added to GTF2H5.
Source NHS GMS was added to GTF2H5.
gene: GTF2H5 was added gene: GTF2H5 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: GTF2H5 was set to