F2

coagulation factor II, thrombin
OMIM: 176930
PanelMode of inheritanceDetails
3 panels
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613679 Factor II deficiency
R-numbers: R112
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
R-numbers: R97
Signed-off version 2.2
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