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  3. F5
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Factor V deficiency

Gene: F5

Green List (high evidence)
F5 (coagulation factor V)
EnsemblGeneIds (GRCh38): ENSG00000198734
EnsemblGeneIds (GRCh37): ENSG00000198734
OMIM: 612309, Gene2Phenotype
F5 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #227400) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 10:34 a.m. | Last Modified: 18 Dec 2025, 10:34 a.m.
Panel Version: 1.2
F5 has been added to the panel for R115 Factor V deficiency with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 1 p.m. | Last Modified: 30 Jun 2023, 1 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 1 p.m.
Last Modified: 18 Dec 2025, 10:34 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Factor V deficiency, OMIM:227400
  • congenital factor V deficiency, MONDO:0009210
OMIM
612309
Clinvar variants
Variants in F5
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: F5 were changed from to Factor V deficiency, OMIM:227400; congenital factor V deficiency, MONDO:0009210

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: F5 was added gene: F5 was added to Factor V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal