THBD

Gene Symbol:
THBD
HGNC:11784
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
20p11.21
Filters:

Atypical hemolytic-uremic syndrome classifications

atypical hemolytic-uremic syndrome
AD
06/28/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

THBD was first reported in relation to autosomal dominant atypical hemolytic uremic syndrome (aHU... Read more

Atypical hemolytic-uremic syndrome with thrombomodulin anomaly classifications

atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Submitted as: OMIM:612926
AD
04/19/2021
Evaluated
11/30/2023
Submitted
atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Submitted as: OMIM:612926
AD
01/17/2025
Evaluated
12/15/2025
Submitted

Thrombomodulin-related bleeding disorder classifications

thrombomodulin-related bleeding disorder
Submitted as: OMIM:614486
AD
03/04/2020
Evaluated
03/31/2021
Submitted
thrombomodulin-related bleeding disorder
Submitted as: Orphanet:436169
AD
09/14/2021
Evaluated
09/14/2021
Submitted
thrombomodulin-related bleeding disorder
Submitted as: OMIM:614486
Unknown
04/19/2021
Evaluated
11/30/2023
Submitted
thrombomodulin-related bleeding disorder
AD
11/06/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

THBD was first reported in relation to autosomal dominant thrombomodulin-related bleeding disorde... Read more

thrombomodulin-related bleeding disorder
AR
11/06/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

THBD was first reported in relation to autosomal recessive thrombomodulin-related bleeding disord... Read more

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