Genomics England
GMS Panels
Panels
Genes and Entities

F5

coagulation factor V
OMIM: 612309
PanelMode of inheritanceDetails
3 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}, 227400 Factor V deficiency, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 Thrombophilia due to activated protein C resistance
Green
in Factor V deficiency
R-numbers: R115
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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
227400 Factor V deficiency, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 Thrombophilia due to activated protein C resistance