COVID-19 researchGene: TNFRSF4
single patient described
Created: 29 Jun 2018, 3:43 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. Request evidences / immunological association of this gene from Victorian Clinical Genetics Services and GRID
Created: 5 Jul 2018, 2:08 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFRSF4 .PanelApp HGNC gene symbol check: TNFRSF4 . IUIS Disease: OX40 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl numbers, low memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Impaired immunity to HHV8, Kaposis sarcoma. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
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, 11:51 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: OX40, PanelApp HGNC gene symbol check: TNFRSF4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TNFRSF4, GRID_Gene_Symbol: TNFRSF4, GRID_Transcript_ENS_Community submitted: ENST00000379236, GRID_Transcript_RefSeq: NM_003327.3, GRID_Transcript_ENS_used_on_Production: ENST00000379236
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to TNFRSF4. Added phenotypes Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency; Immunodeficiencies affecting cellular and humoral immunity; Impaired immunity to HHV8, Kaposis sarcoma; Combined immunodeficiency for gene: TNFRSF4 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TNFRSF4 was added gene: TNFRSF4 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: TNFRSF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF4 were set to 32086639; 32048120 Phenotypes for gene: TNFRSF4 were set to Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency; Immunodeficiencies affecting cellular and humoral immunity; Impaired immunity to HHV8, Kaposis sarcoma; Combined immunodeficiency