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| BabyScreen+ newborn screening v0.1420 | SLC39A14 |
Zornitza Stark Tag treatable tag was added to gene: SLC39A14. Tag metabolic tag was added to gene: SLC39A14. |
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| BabyScreen+ newborn screening v0.1307 | SLC39A14 | Seb Lunke Marked gene: SLC39A14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1307 | SLC39A14 | Seb Lunke Gene: slc39a14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1307 | SLC39A14 | Seb Lunke Tag for review tag was added to gene: SLC39A14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1307 | SLC39A14 | Seb Lunke Classified gene: SLC39A14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1307 | SLC39A14 | Seb Lunke Gene: slc39a14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1306 | SLC39A14 |
Seb Lunke gene: SLC39A14 was added gene: SLC39A14 was added to gNBS. Sources: Literature Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A14 were set to 31089831 Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013 Review for gene: SLC39A14 was set to AMBER Added comment: Established gene-disease association. Childhood onset, multi-system disorder Treatment: manganese chelation therapy with EDTA-CaNa2 with strong improvements in one patient, less effective in multiple others. Age of treatment start (earlier = better) and genotype may impact outcome. Non-genetic confirmatory test: Mn level Sources: Literature |
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