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| BabyScreen+ newborn screening v0.1401 | SLC46A1 |
Zornitza Stark Tag treatable tag was added to gene: SLC46A1. Tag metabolic tag was added to gene: SLC46A1. |
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| BabyScreen+ newborn screening v0.1341 | SLC46A1 | Seb Lunke Marked gene: SLC46A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1341 | SLC46A1 | Seb Lunke Gene: slc46a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1341 | SLC46A1 | Seb Lunke Phenotypes for gene: SLC46A1 were changed from Folate malabsorption, hereditary, MIM# to Folate malabsorption, hereditary, MIM# 229050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1340 | SLC46A1 |
Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, metabolic disorders Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral Non-genetic confirmatory test: CSF and serum folate levels; to: Established gene-disease association. Childhood onset, metabolic disorder Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral Non-genetic confirmatory test: CSF and serum folate levels |
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| BabyScreen+ newborn screening v0.1340 | SLC46A1 |
Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral Non-genetic confirmatory test: CSF and serum folate levels; to: Established gene-disease association. Childhood onset, metabolic disorders Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral Non-genetic confirmatory test: CSF and serum folate levels |
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| BabyScreen+ newborn screening v0.1340 | SLC46A1 | Seb Lunke reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | SLC46A1 |
Zornitza Stark gene: SLC46A1 was added gene: SLC46A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM# |
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