F2

coagulation factor II, thrombin
OMIM: 176930, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green F2 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • 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
Green F2 in Thrombophilia with a likely monogenic cause


Version 2.5
Latest signed off version: v2.2 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 188050 Thrombophilia due to thrombin defect
  • 613679 Hypoprothrombinemia
  • 613679 Dysprothrombinemia
  • 613679 Factor II deficiency
Green F2 in Bleeding and platelet disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • North West GLH
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • 613679 Factor II deficiency
Green F2 in Severe Paediatric Disorders


Version 1.184

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Dysprothrombinemia, 613679
  • Thrombophilia due to thrombin defect, 188050
  • Hypoprothrombinemia, 613679
Green F2 in Factor II deficiency


Version 1.1
Latest signed off version: v1.0 (14 Sep 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS