vitamin K epoxide reductase complex subunit 1
OMIM: 608547, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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VKORC1 in Inherited bleeding disorders
Level 3: Haemostasis disorders
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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Phenotypes
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VKORC1 in Bleeding and platelet disorders
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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Phenotypes
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VKORC1 in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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VKORC1 in Likely inborn error of metabolism - targeted testing not possible
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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VKORC1 in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
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VKORC1 in Severe Paediatric Disorders
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review | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Phenotypes
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VKORC1 in Combined vitamin K-dependent clotting factor deficiency
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review | BIALLELIC, autosomal or pseudoautosomal |
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