VKORC1

vitamin K epoxide reductase complex subunit 1
OMIM: 608547
PanelMode of inheritanceDetails
2 panels
R-numbers: R90
Signed-off version 1.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
607473 Vitamin K-dependent clotting factors, combined deficiency of, 2, 122700 Warfarin resistance
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors), Inherited bleeding disorders