Genomics England
GMS Panels
Panels
Genes and Entities

FGB

fibrinogen beta chain
OMIM: 134830
PanelMode of inheritanceDetails
2 panels
Green
in Bleeding and platelet disorders
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
Green
in Thrombophilia with a likely monogenic cause
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