Inherited bleeding disorders

Gene: SERPINE1

Green List (high evidence)

SERPINE1 (serpin family E member 1)
EnsemblGeneIds (GRCh38): ENSG00000106366
EnsemblGeneIds (GRCh37): ENSG00000106366
OMIM: 173360, Gene2Phenotype
SERPINE1 is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Plasminogen activator Inhibitor 1 deficiency

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Plasminogen activator Inhibitor 1 deficiency

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Foulger (Genomics England curator)

Elevated SERPINE1 is a risk factor for thrombosis.
Created: 25 Oct 2016, 9:44 a.m.

Mode of pathogenicity
Other

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • 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
OMIM
173360
Clinvar variants
Variants in SERPINE1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SERPINE1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINE1 was added to Inherited bleeding disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services SERPINE1 was added to Inherited bleeding disorderspanel. Source: Other SERPINE1 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene SERPINE1 was set to Unknown

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

SERPINE1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene SERPINE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SERPINE1 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINE1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene