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Inherited bleeding disorders
Gene: VKORC1

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

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Multiple coagulation factor deficiency type 2

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Multiple coagulation factor deficiency type 2

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE Study Tier 1 Gene

Phenotypes

Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473

OMIM

608547

Clinvar variants

Variants in VKORC1

Penetrance

Complete

Panels with this gene

History Filter Activity

2 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: VKORC1 were changed from Multiple coagulation factor deficiency type 2 to Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473

28 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for VKORC1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

VKORC1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene VKORC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VKORC1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene