COVID-19 researchGene: TNFRSF13C
variable clinical expression
Created: 29 Jun 2018, 3:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Keep Amber until more info on gene and disease association, noted by expert review that there is variable clinical expression, request evidences from GRID and Victorian Clinical Genetics Services
Created: 5 Jul 2018, 2:06 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFRSF13C (BAFF-R) .PanelApp HGNC gene symbol check: TNFRSF13C . IUIS Disease: BAFF receptor deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Variable clinical expression. 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, 11:53 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: BAFFR, PanelApp HGNC gene symbol check: TNFRSF13C, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID); Predominantly antibody disorders / Hypogammaglobulinemias / Isolated IgG subclass deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TNFRSF13C, GRID_Gene_Symbol: TNFRSF13C, GRID_Transcript_ENS_Community submitted: ENST00000291232, GRID_Transcript_RefSeq: NM_052945.3, GRID_Transcript_ENS_used_on_Production: ENST00000291232
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to TNFRSF13C. Added phenotypes Immunodeficiency, common variable, 4; Variable clinical expression; Isolated IgG subclass deficiency; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies for gene: TNFRSF13C Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: TNFRSF13C was added gene: TNFRSF13C was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TNFRSF13C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF13C were set to 32086639; 32048120 Phenotypes for gene: TNFRSF13C were set to Immunodeficiency, common variable, 4; Variable clinical expression; Isolated IgG subclass deficiency; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies