PLAT:Ensemblv90

plasminogen activator, tissue type
OMIM: 173370, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PLAT in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.63

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872
Tags
  • disputed

Red PLAT in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
  • ClinGen
Phenotypes
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872
Tags
  • disputed

Red PLAT in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872
Tags
  • disputed