Gene Symbol:
THSD1
HGNC:17754
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
13q14.3
Filters:

Ambry Genetics classifications

aneurysm, intracranial berry, 12
Submitted as: OMIM:618734
AD
10/05/2023
Evaluated
01/02/2024
Submitted
multiple congenital anomalies/dysmorphic syndrome
AR
08/06/2018
Evaluated
09/28/2021
Submitted

Invitae classifications

aneurysm, intracranial berry, 12
Submitted as: OMIM:618734
AD
04/09/2020
Evaluated
11/30/2023
Submitted
lymphatic malformation 13
Submitted as: OMIM:620244
AR
07/12/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

intracranial berry aneurysm
Submitted as: Orphanet:231160
AD
09/14/2021
Evaluated
09/14/2021
Submitted

King Faisal Specialist Hospital and Research Center classifications

non-immune hydrops fetalis
AR
03/24/2021
Evaluated
03/24/2021
Submitted
King Faisal Specialist Hospital and Research Center
Evidence: THSD1 was first reported in relation to autosomal recessive form of Non-immune hydrops fetalis (Sham... Read more

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