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Genomic newborn screening: BabyScreen+ v0.1710 | MVK | Zornitza Stark Tag metabolic tag was added to gene: MVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.391 | MVK | Zornitza Stark Marked gene: MVK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.391 | MVK | Zornitza Stark Gene: mvk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.391 | MVK | Zornitza Stark Phenotypes for gene: MVK were changed from Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377 to Mevalonic aciduria, MIM# 610377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.390 | MVK | Zornitza Stark Publications for gene: MVK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.389 | MVK | Zornitza Stark Tag treatable tag was added to gene: MVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.389 | MVK | Zornitza Stark reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.274 | MVK | David Amor reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32066461; Phenotypes: Hyper-IgD syndrome / mevalonate kinase deficiciency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.0 | MVK |
Zornitza Stark gene: MVK was added gene: MVK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377 |