SERPINE1

serpin family E member 1
OMIM: 173360, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SERPINE1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.175

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Plasminogen activator Inhibitor 1 deficiency
  • Plasminogen Activator Inhibitor-1 Deficiency
  • Thrombophilia due to increased concentration of plasminogen activator inhibitor
  • thrombophilia associated with high levels of plasminogen activator inhibitor
  • Plasminogen activator inhibitor-1 deficiency,613329
  • Transcription of plasminogen activator inhibitor, modulator of
Red SERPINE1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green SERPINE1 in Thrombophilia with a likely monogenic cause


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

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 613329 Plasminogen activator inhibitor-1 deficiency
Green SERPINE1 in Bleeding and platelet disorders


Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • North West GLH
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • 613329 Plasminogen activator inhibitor-1 deficiency
Green SERPINE1 in Severe Paediatric Disorders


Version 1.182

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Plasminogen activator inhibitor-1 deficiency, 613329