COVID-19 researchGene: THBD
not sure if you want to include aHUS with the other complement defects under primary immune disorders - this is certainly in that group
Created: 29 Jun 2018, 3:34 p.m.
Keep Amber until more info on gene and disease association, refer to external expert review
Created: 19 Jun 2018, 12:19 p.m.
Previous reviews of this gene from 2016 on the Atypical haemolytic uraemic syndrome panel state that "Associated with phenotype in OMIM, not in G2P. At least nine variants reported but multi-factorial influences prevent this gene from being made green at the moment" . A literature search did not result in further evidence of an association between THBD and and Atypical haemolytic uraemic syndrome. In addition, Osborne et al 2018 (29500241) performed analysis of 610 rare genetic variants from 6 centres in 13 genes including THBD from >3500 patients with atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy. After comparing allele frequencies of variants in these genes with those found in the ExAC server, no association was found between the rare variants in THBD and aHUS.
Created: 14 Jun 2018, 3:23 p.m.
Comment on list classification: Downgraded from Amber to Red. This gene is on the atypical haemolytic uraemic syndrome panel, in view of the rating there this gene should be rated as Red due to the evidences given on the atypical haemolytic uraemic syndrome panel
Created: 5 Jul 2018, 1:40 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): THBD .PanelApp HGNC gene symbol check: THBD . IUIS Disease: Thrombomodulin deficiency . IUIS Inheritance: AD .T cells: Absent TCR, all T cells, poor proliferation, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical hemolytic-uremic syndrome. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
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, 1:07 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: THBD, PanelApp HGNC gene symbol check: THBD, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Thrombomodulin deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: THBD, GRID_Gene_Symbol: THBD, GRID_Transcript_ENS_Community submitted: ENST00000377103, GRID_Transcript_RefSeq: NM_000361.2, GRID_Transcript_ENS_used_on_Production: ENST00000377103
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to THBD. Added phenotypes Complement Deficiencies; Thrombomodulin deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 6; Atypical hemolytic-uremic syndrome for gene: THBD Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: THBD was added gene: THBD 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: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THBD were set to 32086639; 32048120 Phenotypes for gene: THBD were set to Complement Deficiencies; Thrombomodulin deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 6; Atypical hemolytic-uremic syndrome