Inherited bleeding disorders

Gene: THBD

Green List (high evidence)

THBD (thrombomodulin)
EnsemblGeneIds (GRCh38): ENSG00000178726
EnsemblGeneIds (GRCh37): ENSG00000178726
OMIM: 188040, Gene2Phenotype
THBD is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Thrombomodulin deficiency

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Thrombomodulin deficiency

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Thrombomodulin deficiency
  • Thrombophilia Due To Thrombomodulin Defect
  • Thrombophilia due to thrombomodulin defect 614486
OMIM
188040
Clinvar variants
Variants in THBD
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Aug 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Eligibility statement prior genetic testing was added to THBD. Panel: Inherited bleeding disorders

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

THBD was added to Inherited bleeding disorderspanel. Source: UKGTN THBD was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

THBD was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

THBD was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

THBD was created by ellenmcdonagh