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| Genomic newborn screening: BabyScreen+ v0.540 | DOLK | Zornitza Stark Marked gene: DOLK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.540 | DOLK | Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.540 | DOLK | Zornitza Stark Classified gene: DOLK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.540 | DOLK | Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.539 | DOLK |
Zornitza Stark changed review comment from: Established gene-disease association. Congenital onset. Severe multi-system disorder, mortality in infancy.; to: Established gene-disease association. Congenital onset. Severe multi-system disorder, mortality in infancy. No specific treatment. |
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| Genomic newborn screening: BabyScreen+ v0.539 | DOLK | Zornitza Stark reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.523 | DOLK | John Christodoulou reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | DOLK |
Zornitza Stark gene: DOLK was added gene: DOLK was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 30653653; 22242004; 23890587; 17273964; 28816422; 24144945 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, MIM# 610768; DK1-CDG, MONDO:0012556 |
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