Genomics England
GMS Panels
Panels
Genes and Entities

SERPINE1

serpin family E member 1
OMIM: 173360
PanelMode of inheritanceDetails
2 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
613329 Plasminogen activator inhibitor-1 deficiency
Green
in Thrombophilia with a likely monogenic cause
R-numbers: R97
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
613329 Plasminogen activator inhibitor-1 deficiency