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| BabyScreen+ newborn screening v0.1419 | SLC37A4 |
Zornitza Stark Tag treatable tag was added to gene: SLC37A4. Tag metabolic tag was added to gene: SLC37A4. |
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| BabyScreen+ newborn screening v0.1333 | SLC37A4 | Seb Lunke Marked gene: SLC37A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1333 | SLC37A4 | Seb Lunke Gene: slc37a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1333 | SLC37A4 | Seb Lunke Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, MIM#232220 to Glycogen storage disease Ib, MIM# 232220; Glycogen storage disease Ic, MIM# 232240; Congenital disorder of glycosylation, type IIw, MIM# 619525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1332 | SLC37A4 | Seb Lunke Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1331 | SLC37A4 | Seb Lunke Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1331 | SLC37A4 |
Seb Lunke edited their review of gene: SLC37A4: Added comment: Established gene-disease association. Childhood onset, metabolic disorder Treatment: corn starch, nighttime intragastric continuous glucose infusion, allopurinol, statin, granulocyte-colony stimulating factor (G-CSF), empagliflozin Non-genetic confirmatory test: no; Changed phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic, MIM# 232240, Congenital disorder of glycosylation, type IIw, MIM# 619525 |
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| BabyScreen+ newborn screening v0.1331 | SLC37A4 | Seb Lunke reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic M232240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | SLC37A4 |
Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, MIM#232220 |
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