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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