Bleeding and Platelet Disorders

Gene: F2

Green List (high evidence)

Note there is a common 3'-UTR c.*97G>A variant

Created: 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

• 30297698

Green List (high evidence)

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

• 30297698

Mode of pathogenicity
Other

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