Inherited bleeding disorders

Gene: F5

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Factor V deficiency

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Factor V deficiency

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Factor V deficiency
  • Thrombophilia, susceptibility to, due to factor V Leiden 188055
  • Thrombophilia due to activated protein C resistance 188055
  • Factor V Cambridge Thrombophilia
  • Factor V Leiden Thrombophilia
  • Factor V R2 Mutation Thrombophilia
  • Thrombophilia Due To Activated Protein C Resistance
OMIM
612309
Clinvar variants
Variants in F5
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for F5 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

F5 was added to Inherited bleeding disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services F5 was added to Inherited bleeding disorderspanel. Source: UKGTN F5 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene F5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

F5 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

F5 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

F5 was created by ellenmcdonagh