Genomics England
GMS Panels
Panels
Genes and Entities

F2

coagulation factor II, thrombin
OMIM: 176930
PanelMode of inheritanceDetails
3 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 4.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613679 Factor II deficiency
Green
in Factor II deficiency
R-numbers: R112
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysprothrombinemia, OMIM:613679, Hypoprothrombinemia, OMIM:613679, congenital prothrombin deficiency, MONDO:0013361
Green
in Thrombophilia with a likely monogenic cause
R-numbers: R97
Signed-off version 3.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
188050 Thrombophilia due to thrombin defect, 613679 Hypoprothrombinemia, 613679 Dysprothrombinemia, 613679 Factor II deficiency