Genomics England
GMS Panels
Panels
Genes and Entities

F12

coagulation factor XII
OMIM: 610619
PanelMode of inheritanceDetails
3 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Angioedema, hereditary, type III, OMIM:610618, Factor XII deficiency, OMIM:234000
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Angioedema, hereditary, 3, OMIM:610618
Green
in Vascular skin disorders
R-numbers: R326
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary angioedema