Inherited bleeding disorders
Gene: SERPINE1EnsemblGeneIds (GRCh38): ENSG00000106366
EnsemblGeneIds (GRCh37): ENSG00000106366
OMIM: 173360, Gene2Phenotype
SERPINE1 is in 3 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)
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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
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
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
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
Created
Ellen McDonagh (Genomics England Curator)SERPINE1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SERPINE1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene