Inherited bleeding disorders
Gene: F2EnsemblGeneIds (GRCh38): ENSG00000180210
EnsemblGeneIds (GRCh37): ENSG00000180210
OMIM: 176930, Gene2Phenotype
F2 is in 4 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
Prothrombin 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
Prothrombin 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
-
- Prothrombin deficiency
- Thrombophilia Due To Thrombin Defect
- Dysprothrombinemia 613679
- Hypoprothrombinemia 613679
- Thrombophilia due to thrombin defect 188050
- Prothrombin-Related Thrombophilia
- OMIM
- 176930
- Clinvar variants
- Variants in F2
- 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 F2 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)F2 was added to Inherited bleeding disorderspanel. Source: UKGTN F2 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen F2 was added to Inherited bleeding disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene F2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance, Added New Source
Louise Daugherty (Genomics England Curator)F2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene F2 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)F2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)F2 was created by ellenmcdonagh