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| BabyScreen+ newborn screening v0.1714 | SLC5A7 |
Zornitza Stark Tag treatable tag was added to gene: SLC5A7. Tag neurological tag was added to gene: SLC5A7. |
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| BabyScreen+ newborn screening v0.1256 | SLC5A7 | Seb Lunke Marked gene: SLC5A7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1256 | SLC5A7 | Seb Lunke Gene: slc5a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1256 | SLC5A7 | Seb Lunke Classified gene: SLC5A7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1256 | SLC5A7 | Seb Lunke Gene: slc5a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1255 | SLC5A7 |
Seb Lunke gene: SLC5A7 was added gene: SLC5A7 was added to gNBS. Sources: Literature Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A7 were set to 20301347 Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143 Review for gene: SLC5A7 was set to GREEN Added comment: Established gene-disease association. Childhood onset, severe neuromuscular disorder (recessive disease) Treatment: Salbutamol, Acetylcholine-esterase inhibitors Non-genetic confirmatory test: repetitive nerve stimulation test Sources: Literature |
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