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 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
  • Expert Review
Phenotypes
  • Lymphatic malformation 13, OMIM:620244