THBS2

thrombospondin 2
OMIM: 188061, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber THBS2 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.87

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 3, MIM# 620865

Amber THBS2 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 3, MIM# 620865