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  3. THBD
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Inherited bleeding disorders

Gene: THBD

Green List (high evidence)
THBD (thrombomodulin)
EnsemblGeneIds (GRCh38): ENSG00000178726
EnsemblGeneIds (GRCh37): ENSG00000178726
OMIM: 188040, Gene2Phenotype
THBD is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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

Phenotypes
Thrombomodulin deficiency

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

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

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

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