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Primary immunodeficiency

Gene: THBD

Red List (low evidence)

THBD (thrombomodulin)
EnsemblGeneIds (GRCh38): ENSG00000178726
EnsemblGeneIds (GRCh37): ENSG00000178726
OMIM: 188040, Gene2Phenotype
THBD is in 7 panels

3 reviews

Sophie Hambleton (Newcastle University)

I don't know

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.

Phenotypes
aHUS

Eleanor Williams (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6
  • Atypical hemolytic-uremic syndrome
  • Complement Deficiencies
  • Thrombomodulin deficiency
OMIM
188040
Clinvar variants
Variants in THBD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to THBD. Mode of inheritance for gene THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Atypical hemolytic-uremic syndrome; Complement Deficiencies for gene: THBD Publications for gene THBD were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: thbd has been classified as Red List (Low Evidence).

5 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: thbd has been classified as Red List (Low Evidence).

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene THBD were set to Hemolytic uremic syndrome, atypical, susceptibility to, 6, Thrombomodulin deficiency, Atypical hemolytic-uremic syndrome, Complement Deficiencies

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to THBD. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to THBD. Panel: Primary immunodeficiency disorders

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to THBD. Panel: Primary immunodeficiency disorders Phenotypes for gene THBD were set to Hemolytic uremic syndrome, atypical, susceptibility to, 6, Thrombomodulin deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene THBD were set to Hemolytic uremic syndrome, atypical, susceptibility to, 6

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

THBD was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

THBD was created by Louise Daugherty