THBS1:Ensemblv115

thrombospondin 1
OMIM: 188060, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green THBS1 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital glaucoma MONDO:0020366, THBS1-related