COVID-19 researchGene: TNFSF12
one kindred only
Created: 29 Jun 2018, 3:45 p.m.
Comment on list classification: Changed from Amber to Red until more info to support gene-disease association. Currently only one case reported in literature, the variant being VUS. Request evidences / immunological association of this gene from Victorian Clinical Genetics Services and GRID
Created: 5 Jul 2018, 2:20 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFSF12 .PanelApp HGNC gene symbol check: TNFSF12 . IUIS Disease: TWEAK deficiency . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 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: 19 Apr 2018, 11:50 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TWEAK, PanelApp HGNC gene symbol check: TNFSF12, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TNFSF12, GRID_Gene_Symbol: TNFSF12, GRID_Transcript_ENS_Community submitted: ENST00000293825, GRID_Transcript_RefSeq: NM_003809.2, GRID_Transcript_ENS_used_on_Production: ENST00000293825
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to TNFSF12. Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia; Pneumonia, bacterial infections, warts, thrombocytopenia for gene: TNFSF12 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TNFSF12 was added gene: TNFSF12 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: TNFSF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNFSF12 were set to 23493554; 32086639; 32048120 Phenotypes for gene: TNFSF12 were set to Immunodeficiency, common variable with lack of anti-pneumococcal antibody; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia; Pneumonia, bacterial infections, warts, thrombocytopenia