Prepair 1000+

Gene: F2

Green List (high evidence)

Prothrombin deficiency type I, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia.

HGNC approved symbol/name: F2
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families

Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein

AD forms and multifactorial conditions described for this gene not reportable in screening context

Created: 4 Sep 2024, 1:32 a.m. | Last Modified: 4 Sep 2024, 1:39 a.m.

Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoprothrombinemia MIM# 613679; congenital prothrombin deficiency MONDO:0013361

Publications

• 23852823

Green List (high evidence)

Can present as severe perinatal disease.

Created: 9 Sep 2022, 5:19 a.m. | Last Modified: 9 Sep 2022, 5:19 a.m.

Panel Version: 0.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoprothrombinaemia (MIM#613679)

I don't know

Gene associated with a bleeding disorder with variable severity. Also confers susceptibility to variant other conditions which are not reportable in a screening context

Consider for exclusion?

Created: 15 Jul 2022, 1:09 a.m. | Last Modified: 15 Jul 2022, 1:09 a.m.

Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dysprothrombinemia (MIM#613679); Hypoprothrombinemia (MIM#613679)