TLN1

talin 1
OMIM: 186745, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TLN1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

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

Red TLN1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

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

Amber TLN1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • idiopathic spontaneous coronary artery dissection MONDO:0007385
  • thrombocytopenia, MONDO:0002049, TLN1-related