Cerebral vascular malformations

Gene: THSD1

Amber List (moderate evidence)

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

3 reviews

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27895300- Single large family reported with LoF variant segregating in 22 individuals, supportive animal model. Mouse has hydrocephaly with poor perfusion.

PMID: 33569873 - 1 fetus with a homozygous PTC and nonimmune hydrops fetalis (NIHF), congenital heart disease and hemangiomas. Mother described as having Crohns disease but nothing else unusual, no comments on the father. Fx of 1/3 triplets with severe hydrops fetalis, not sequenced.
- Paper reviews previous NIHF cases and reports another homozygous PTC in two families (4, 2 affected) and a recurring homozygous missense (p.Cys206Tyr) in three families (6, 4, 3 affected).
- No mention of clinically affected heterozygotes.
Created: 28 Jun 2022, 2:39 a.m. | Last Modified: 28 Jun 2022, 2:39 a.m.
Panel Version: 1.79

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aneurysm, intracranial berry, 12 MIM# 618734; nonimmune hydrops fetalis

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single large family reported with LoF variant segregating in 22 individuals, supportive animal model.
Created: 30 Mar 2022, 12:37 a.m. | Last Modified: 30 Mar 2022, 12:37 a.m.
Panel Version: 0.12289

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aneurysm, intracranial berry, 12 , MIM# 618734

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • subarachnoid hemorrhage
OMIM
616821
Clinvar variants
Variants in THSD1
Penetrance
None
Publications
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