Inherited bleeding disorders
Gene: F5EnsemblGeneIds (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)
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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
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
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
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
Added New Source
Ellen McDonagh (Genomics England Curator)F5 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)F5 was created by ellenmcdonagh