THSD1

thrombospondin type 1 domain containing 1
OMIM: 616821, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber THSD1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Literature
Phenotypes
  • subarachnoid hemorrhage
Amber THSD1 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • Intracerebral aneurysms
  • ?Hydrops fetalis