Genomics England
GMS Panels
Panels
Genes and Entities

F13B

coagulation factor XIII B chain
OMIM: 134580
PanelMode of inheritanceDetails
2 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 4.16
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Factor XIIIB deficiency, OMIM:613235
Green
in Factor XIII deficiency
R-numbers: R122
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Factor XIIIB deficiency, OMIM:613235, factor XIII, b subunit, deficiency of, MONDO:0013190