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| BabyScreen+ newborn screening v0.1971 | VKORC1 | Zornitza Stark Marked gene: VKORC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1971 | VKORC1 | Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1971 | VKORC1 | Zornitza Stark Mode of inheritance for gene: VKORC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1970 | VKORC1 | Zornitza Stark Classified gene: VKORC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1970 | VKORC1 | Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1969 | VKORC1 |
Zornitza Stark Tag treatable tag was added to gene: VKORC1. Tag haematological tag was added to gene: VKORC1. |
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| BabyScreen+ newborn screening v0.1969 | VKORC1 | Zornitza Stark reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1958 | VKORC1 |
Lilian Downie gene: VKORC1 was added gene: VKORC1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: VKORC1 were set to PMID:14765194, PMID: 26287237 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 AMBER Added comment: Risk of intracranial haemmorhage in first weeks of life Treatable with vitamin K See below summary - feels like should be green for that homozygous mutation but not sure how to manage the gene overall? not report other variants? Monoallelic - warfarin resistance There is only one mutation known to result in the VKCFD2 phenotype. VKORC1:p.Arg98Trp causes diminished vitamin K epoxide reductase (VKOR) activity compared to that of the wild-type enzyme [15]. VKCFD2 patients exhibit severely diminished activities for the VKD coagulation factors and suffer spontaneous or surgery/injury induced bleeding episodes [16,17]. In addition to this haemorrhagic phenotype, abnormalities in epiphyseal growth have been reported in one case [18]. This phenotype is very rare. Worldwide, there are only four unrelated families known to be affected with VKCFD2 [16,17,18]. Sources: Expert list |
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