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Prepair 1000+

Gene: F2

Green List (high evidence)

F2 (coagulation factor II, thrombin)
EnsemblGeneIds (GRCh38): ENSG00000180210
EnsemblGeneIds (GRCh37): ENSG00000180210
OMIM: 176930, Gene2Phenotype
F2 is in 8 panels

3 reviews

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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)

Crystle Lee (Victorian Clinical Genetics Services)

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)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dysprothrombinaemia, 613679
  • Hypoprothrombinaemia (MIM#613679)
OMIM
176930
Clinvar variants
Variants in F2
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679) for gene: F2

9 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: f2 has been classified as Green List (High Evidence).

9 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: F2 were changed from Dysprothrombinemia, 613679 (3) to Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679)

9 Sep 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: F2.

15 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: F2.

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: F2 was added gene: F2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3)