VKORC1

vitamin K epoxide reductase complex subunit 1
OMIM: 608547
PanelMode of inheritanceDetails
2 panels
R-numbers: R90
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473, Warfarin resistance, OMIM:122700
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473