Bleeding and Platelet Disorders
Gene: F5
Well established gene-disease association. Variants resulting in the absence or dysfunction of activated factor V lead to hemorrhagic disease, whereas variants resulting in excessive longevity of the active factor V are associated with thrombosis.Created: 2 Jun 2021, 8:23 p.m. | Last Modified: 2 Jun 2021, 8:23 p.m.
Panel Version: 0.243
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Gene: f5 has been classified as Green List (High Evidence).
Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: F5 was added gene: F5 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: F5 was set to Unknown