Inherited bleeding disorders

Gene: F2

Green List (high evidence)

F2 (coagulation factor II, thrombin)
EnsemblGeneIds (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)

Green List (high evidence)

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

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

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

19 Dec 2016, Gel status: 4

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

19 Dec 2016, Gel status: 4

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

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

F2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

F2 was created by ellenmcdonagh