THBS2

thrombospondin 2
OMIM: 188061, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red THBS2 in Thoracic aortic aneurysm or dissection (GMS)


Level 2: Cardiology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865
Amber THBS2 in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865