Cerebral vascular malformations
Gene: THSD1
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
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
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
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