COVID-19 research
Gene: CD70
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
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
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CD70 (TNFSF7) .PanelApp HGNC gene symbol check: CD70 . IUIS Disease: CD70 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl number, poor antibody and memory responses, .IUIS Other affected cells: N/A. IUIS Associated features: EBV susceptibility, Hodgkin lymphoma. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative ConditionsCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support there more than three unrelated familiesCreated: 12 Jun 2018, 12:20 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 12 Jun 2018, 12:15 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 12 Jun 2018, 12:15 p.m.
Comment on mode of inheritance: Added MOI from external expert reviewCreated: 12 Jun 2018, 12:14 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD70, PanelApp HGNC gene symbol check: CD70, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / CD70-deficiencyCreated: 17 Apr 2018, 12:29 p.m.
gene: CD70 was added gene: CD70 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD70 were set to 28011864; 28011863; 29434583 Phenotypes for gene: CD70 were set to Combined immunodeficiency; CD70-deficiency; Diseases of Immune Dysregulation; EBV-related malignancy; EBV susceptibility, Hodgkin lymphoma