1. Panels
  2. Bleeding and Platelet Disorders
  3. THBD
STRs in panel
Prev Next
Regions in panel
Prev Next

Bleeding and Platelet Disorders

Gene: THBD

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 families with an inherited platelet disorder and a truncating variant, 4 of which are apparently unrelated families with the same stopgain (p.Cys537Ter). With supporting in vitro assays and phenotypic assessment of patient cells.
Created: 30 Nov 2020, 12:44 a.m. | Last Modified: 30 Nov 2020, 12:44 a.m.
Panel Version: 0.204

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombomodulin‐associated coagulopathy

Publications

Created: 30 Nov 2020, 12:44 a.m.
Last Modified: 30 Nov 2020, 12:44 a.m.
Panel version: 0.204

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene have been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain.
Sources: Expert list
Created: 16 Aug 2020, 7:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bleeding disorder

Publications

Created: 16 Aug 2020, 7:50 a.m.

Panel version: 0.177

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder
OMIM
188040
Clinvar variants
Variants in THBD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: THBD were set to 25564403; 32634856

30 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: thbd has been classified as Green List (High Evidence).

16 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thbd has been classified as Amber List (Moderate Evidence).

16 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thbd has been classified as Amber List (Moderate Evidence).

16 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THBD was added gene: THBD was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THBD were set to 25564403; 32634856 Phenotypes for gene: THBD were set to Bleeding disorder Review for gene: THBD was set to AMBER