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Combined vitamin K-dependent clotting factor deficiency

Gene: VKORC1

Green List (high evidence)
VKORC1 (vitamin K epoxide reductase complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000167397
EnsemblGeneIds (GRCh37): ENSG00000167397
OMIM: 608547, Gene2Phenotype
VKORC1 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #607473) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 11:16 p.m. | Last Modified: 17 Dec 2025, 11:16 p.m.
Panel Version: 1.3
VKORC1 has been added to the panel for R123 Combined vitamin K-dependent clotting factor deficiency with a green rating as agreed with the NHS Genomic Medicine Service
Created: 30 Jun 2023, 11:48 a.m. | Last Modified: 30 Jun 2023, 11:48 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 11:48 a.m.
Last Modified: 30 Jun 2023, 11:48 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, type 2, OMIM:607473
  • vitamin K-dependent clotting factors, combined deficiency of, type 2, MONDO:0011837
OMIM
608547
Clinvar variants
Variants in VKORC1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: VKORC1 were changed from to Vitamin K-dependent clotting factors, combined deficiency of, type 2, OMIM:607473; vitamin K-dependent clotting factors, combined deficiency of, type 2, MONDO:0011837

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: VKORC1 was added gene: VKORC1 was added to Combined vitamin K-dependent clotting factor deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal