Genomics England
GMS Panels
Panels
Genes and Entities

VKORC1

vitamin K epoxide reductase complex subunit 1
OMIM: 608547
PanelMode of inheritanceDetails
3 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
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
Green
in Combined vitamin K-dependent clotting factor deficiency
R-numbers: R123
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
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