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| Genomic newborn screening: BabyScreen+ v0.1710 | PHKB |
Zornitza Stark Tag treatable tag was added to gene: PHKB. Tag metabolic tag was added to gene: PHKB. |
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| Genomic newborn screening: BabyScreen+ v0.773 | PHKB | Zornitza Stark Marked gene: PHKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.773 | PHKB | Zornitza Stark Gene: phkb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.773 | PHKB | Zornitza Stark Phenotypes for gene: PHKB were changed from Phosphorylase kinase deficiency to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.719 | PHKB | John Christodoulou reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: marked hepatomegaly, hypoglycaemia, short stature, fasting ketosis, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | PHKB |
Zornitza Stark gene: PHKB was added gene: PHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency |
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