Complement Deficiencies
Gene: THBD

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, 12:46 a.m. | Last Modified: 30 Nov 2020, 12:46 a.m.

Panel Version: 0.5500

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombomodulin‐associated coagulopathy

Publications

Created: 30 Nov 2020, 12:46 a.m.
Last Modified: 30 Nov 2020, 12:46 a.m.
Panel version: Imported from Mendeliome panel version 0.5500

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Initially linked to susceptibility to aHUS (PMID: 19625716). However, more recent studies that have benefited from large population datasets such as ExAC have not found an association (29500241).
Created: 11 Apr 2020, 10:55 p.m. | Last Modified: 11 Apr 2020, 10:55 p.m.

Panel Version: 0.31

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926

Publications

Created: 11 Apr 2020, 10:55 p.m.
Last Modified: 11 Apr 2020, 10:55 p.m.
Panel version: 0.31

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Red
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926

OMIM

188040

Clinvar variants

Variants in THBD

Penetrance

None

Publications

Panels with this gene