THSD1:Ensemblv115

thrombospondin type 1 domain containing 1
OMIM: 616821, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber THSD1 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • subarachnoid hemorrhage