Bleeding and Platelet Disorders
Gene: F2
Note there is a common 3'-UTR c.*97G>A variantCreated: 18 Feb 2020, 7:15 a.m. | Last Modified: 18 Feb 2020, 7:15 a.m.
Panel Version: 0.1379
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD
Publications
Genotype-phenotype correlation is unclear. The common 3'-UTR c.*97G>A variant has been reported to have semi-dominant inheritance, with homozygotes having a greater risk for venous thromboembolism; and shown to have a gain-of-function effect in protein synthesis (PMID: 30297698).Created: 18 Feb 2020, 4:10 a.m. | Last Modified: 18 Feb 2020, 4:10 a.m.
Panel Version: 0.6
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Tag 5'UTR tag was added to gene: F2.
Gene: f2 has been classified as Green List (High Evidence).
Phenotypes for gene: F2 were changed from to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD
Publications for gene: F2 were set to
Mode of pathogenicity for gene: F2 was changed from to Other
Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: F2 was added gene: F2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: F2 was set to Unknown