Bleeding and Platelet Disorders
Gene: F5EnsemblGeneIds (GRCh38): ENSG00000198734
EnsemblGeneIds (GRCh37): ENSG00000198734
OMIM: 612309, Gene2Phenotype
F5 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- 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
- OMIM
- 612309
- Clinvar variants
- Variants in F5
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: f5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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