Inherited bleeding disorders
Gene: VKORC1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Multiple coagulation factor deficiency type 2
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Multiple coagulation factor deficiency type 2
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: VKORC1 were changed from Multiple coagulation factor deficiency type 2 to Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473
Mode of inheritance for VKORC1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Revised 19 December 2016
VKORC1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene VKORC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
VKORC1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
VKORC1 was created by ellenmcdonagh