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  3. VKORC1
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TEST Undiagnosed metabolic disorders

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

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
OMIM
608547
Clinvar variants
Variants in VKORC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: VKORC1 was added gene: VKORC1 was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Amber,Literature Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: VKORC1 were set to 27604308