COVID-19 research
Gene: CTSC
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
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association. At least four variants reported.Created: 3 Jul 2018, 9:44 a.m.
Comment on mode of inheritance: Added MOI from external expert reviewCreated: 3 Jul 2018, 9:37 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 3 Jul 2018, 9:34 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CTSC .PanelApp HGNC gene symbol check: CTSC . IUIS Disease: Papillon-Lefevre Syndrome . IUIS Inheritance: AR .T cells: Increased DN T cells, .B cells: N/A, .IUIS Other affected cells: N + M. IUIS Associated features: Periodontitis, palmoplantar hyperkeratosis in some patients. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of MotilityCreated: 2 Jul 2018, 10:35 a.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.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CTSC, PanelApp HGNC gene symbol check: CTSC, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Papillon-Lefevre syndrome / Papillon-Lefevre syndromeCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CTSC, GRID_Gene_Symbol: CTSC, GRID_Transcript_ENS_Community submitted: ENST00000227266, GRID_Transcript_RefSeq: NM_001814.4, GRID_Transcript_ENS_used_on_Production: ENST00000227266Created: 17 Apr 2018, 12:12 p.m.
gene: CTSC was added gene: CTSC was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 10593994; 10662807; 11106356 Phenotypes for gene: CTSC were set to Severe periodontitis; Periodontitis, palmoplantar hyperkeratosis in some patients; Congenital defects of phagocyte number or function; Haim-Munk syndrome, 245010; palmoplantar keratoderma; Papillon-Lefevre syndrome, 245000