TLN1:Ensemblv115

talin 1
OMIM: 186745, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TLN1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • idiopathic spontaneous coronary artery dissection MONDO:0007385

Amber TLN1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • thrombocytopenia, MONDO:0002049, TLN1-related