Likely inborn error of metabolism - targeted testing not possible
Gene: VKORC1
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Comment on list classification: Promoted from Amber to Green. VKORC1 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.Created: 16 Oct 2019, 1:43 p.m. | Last Modified: 16 Oct 2019, 1:43 p.m.
Panel Version: 1.359
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473; Warfarin resistance, 122700
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Inherited bleeding disorders
Phenotypes for gene: VKORC1 were changed from Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors); Inherited bleeding disorders to Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473
Gene: vkorc1 has been classified as Green List (High Evidence).
Source NHS GMS was added to VKORC1. Source London North GLH was added to VKORC1.
Sarah Leigh: Associated with phenotype in O
gene: VKORC1 was added gene: VKORC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber 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 Phenotypes for gene: VKORC1 were set to Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors); Inherited bleeding disorders