1. Genes and Genomic Entities
  2. PLAT

PLAT

plasminogen activator, tissue type
OMIM: 173370, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PLAT in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Tissue Plasminogen Activator deficiency
  • Thrombophilia, familial, due to decreased release of PLAT 612348
  • Thrombophilia due to decreased release of tissue plasminogen
Amber PLAT in Thrombophilia with a likely monogenic cause


Version 2.5
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London South GLH
Phenotypes
  • Thrombophilia, familial, due to decreased release of PLAT, OMIM:612348