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  2. Bleeding and Platelet Disorders
  3. SERPINE1
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Bleeding and Platelet 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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Phenotypes
Plasminogen activator inhibitor-1 deficiency, MIM# 613329

Publications

Created: 4 Jun 2021, 2:29 a.m.
Last Modified: 4 Jun 2021, 2:29 a.m.
Panel version: 0.301

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Plasminogen activator inhibitor-1 deficiency, MIM# 613329
OMIM
173360
Clinvar variants
Variants in SERPINE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: serpine1 has been classified as Green List (High Evidence).

4 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SERPINE1 were changed from to Plasminogen activator inhibitor-1 deficiency, MIM# 613329

4 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SERPINE1 were set to

4 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SERPINE1 was added gene: SERPINE1 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SERPINE1 was set to Unknown