Cerebral vascular malformations
Gene: THSD1

THSD1 (thrombospondin type 1 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000136114
EnsemblGeneIds (GRCh37): ENSG00000136114
OMIM: 616821, Gene2Phenotype
THSD1 is in 4 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Large family with 9 individuals with intracranial aneurysms. p. R450X variant segregated in family members (variant is absent in gnomAD v4.1).
Supportive Mouse model that shows the loss of function variant results in abnormal cerebrovaculature.
Created: 25 Nov 2024, 12:03 a.m. | Last Modified: 25 Nov 2024, 12:03 a.m.

Panel Version: 0.39

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

Phenotypes
intracranial berry aneurysm MONDO:0016483

Publications

27895300

Created: 25 Nov 2024, 12:03 a.m.
Last Modified: 25 Nov 2024, 12:03 a.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Genomics England PanelApp
Expert Review Amber

Phenotypes

subarachnoid hemorrhage

OMIM

616821

Clinvar variants

Variants in THSD1

Penetrance

None

Publications

27895300

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THSD1 was added gene: THSD1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: THSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THSD1 were set to 27895300 Phenotypes for gene: THSD1 were set to subarachnoid hemorrhage

Cerebral vascular malformations Gene: THSD1