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  2. Bleeding and Platelet Disorders
  3. VKORC1
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Bleeding and Platelet Disorders

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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe presentation with intracranial haemorrhage in first few weeks of life reported with bi-allelic variants.
Sources: Expert list
Created: 17 Aug 2020, 12:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 17 Aug 2020, 12:55 a.m.

Panel version: 0.191

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473
OMIM
608547
Clinvar variants
Variants in VKORC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vkorc1 has been classified as Green List (High Evidence).

17 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vkorc1 has been classified as Green List (High Evidence).

17 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VKORC1 was added gene: VKORC1 was added to Bleeding Disorders. Sources: 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 Review for gene: VKORC1 was set to GREEN