Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: F5

Green List (high evidence)

F5 (coagulation factor V)
EnsemblGeneIds (GRCh38): ENSG00000198734
EnsemblGeneIds (GRCh37): ENSG00000198734
OMIM: 612309, Gene2Phenotype
F5 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 8:26 p.m. | Last Modified: 2 Jun 2021, 8:26 p.m.
Panel Version: 0.7756

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

2 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f5 has been classified as Green List (High Evidence).

2 Jun 2021, Gel status: 3

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

2 Jun 2021, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: F5 was set to Unknown