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Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Marked gene: DLD as ready
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Classified gene: DLD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.538 DLD Zornitza Stark reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DLD John Christodoulou reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuroregresson, lactic acidosis, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Maple syrup urine disease, type III, MIM#246900