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Newborns main panel

Gene: VKORC1

Amber List (moderate 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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 24963046 - 3 patients from 3 unrelated families in 5 publications have been reported with the same homozygous missense variant, Arg98Trp
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 2
OMIM
608547
Clinvar variants
Variants in VKORC1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to VKORC1. Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 for gene: VKORC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to VKORC1. Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 for gene: VKORC1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to VKORC1. Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 for gene: VKORC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to VKORC1. Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 for gene: VKORC1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to VKORC1. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 for gene: VKORC1

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: VKORC1 was added gene: VKORC1 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal