TEK:Ensemblv115

TEK receptor tyrosine kinase
OMIM: 600221, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TEK in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Glaucoma 3, primary congenital, E, MIM# 617272

Green TEK in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal 600195