Transplant Co-Morbidity Superpanel
Gene: VKORC1

VKORC1 (vitamin K epoxide reductase complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000167397
EnsemblGeneIds (GRCh37): ENSG00000167397
OMIM: 608547, Gene2Phenotype
VKORC1 is in 8 panels

1 review

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

It is involved in guidelines for warfarin and other anticoagulants.
https://www.pharmgkb.org/gene/PA133787052

Warfarin, as do other coumarin-type drugs with similar mechanisms of action, acts as an inhibitor of VKORC1; this leads to a reduced amount of vitamin K available to serve as a cofactor for clotting proteins (PMID: 14765194).

A deficiency of Vitamin K-Dependent Clotting Factors has been seen in multiple individuals with homozygous missense variants (PMID: 18315553; 14765194).

The genetic mechanism of Warfarin resistance and Warfarin sensitivity are dependent on the presence of a single or multiple allelic variants. Haplotypes based on SNPs explain a large fraction of the interindividual variation in warfarin dose (PMID: 19940803).
Created: 25 Aug 2023, 1:16 a.m. | Last Modified: 25 Aug 2023, 1:16 a.m.

Panel Version: 0.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473; Warfarin resistance MIM# 122700

Publications

Created: 25 Aug 2023, 1:16 a.m.
Last Modified: 25 Aug 2023, 1:16 a.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert list
Expert Review Green

Phenotypes

Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473

OMIM

608547

Clinvar variants

Variants in VKORC1

Penetrance

None

Publications

14765194

Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: VKORC1 was added gene: VKORC1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VKORC1 were set to 14765194 Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473

Transplant Co-Morbidity Superpanel Gene: VKORC1