| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v1.114 | GALM | Tommy Li Added phenotypes Galactosemia IV MIM#618881 for gene: GALM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1814 | GALM | Zornitza Stark Marked gene: GALM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1814 | GALM | Zornitza Stark Gene: galm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1814 | GALM | Zornitza Stark Classified gene: GALM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1814 | GALM | Zornitza Stark Gene: galm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1813 | GALM |
Zornitza Stark gene: GALM was added gene: GALM was added to gNBS. Sources: Expert Review treatable, metabolic tags were added to gene: GALM. Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALM were set to Galactosemia IV MIM#618881 Review for gene: GALM was set to GREEN Added comment: Established gene-disease association. Congenital onset. Treatment: galactose/lactose-restricted diet. Non-genetic confirmatory testing: galactose level. Sources: Expert Review |
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