FGB

fibrinogen beta chain
OMIM: 134830
PanelMode of inheritanceDetails
2 panels
R-numbers: R90
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
202400 Afibrinogenemia, congenital, 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 202400 Hypofibrinogenemia, congenital, 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital
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
Afibrinogenemia, congenital, OMIM:202400, Hypofibrinogenemia, congenital, OMIM:202400, Dysfibrinogenemia, congenital, OMIM:616004, Thrombophilia, MONDO:0002305