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| Genomic newborn screening: BabyScreen+ v0.1566 | PKD2 | Zornitza Stark Marked gene: PKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1566 | PKD2 | Zornitza Stark Gene: pkd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1566 | PKD2 | Zornitza Stark Phenotypes for gene: PKD2 were changed from Polycystic kidney disease to Polycystic kidney disease 2, MIM# 613095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1565 | PKD2 | Zornitza Stark Classified gene: PKD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1565 | PKD2 | Zornitza Stark Gene: pkd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1564 | PKD2 |
Zornitza Stark Tag for review tag was added to gene: PKD2. Tag treatable tag was added to gene: PKD2. Tag renal tag was added to gene: PKD2. |
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| Genomic newborn screening: BabyScreen+ v0.1564 | PKD2 |
Zornitza Stark changed review comment from: Well established gene-disease association. Onset of renal failure is generally in adulthood, though cysts are apparent earlier. Treatment: Tolvaptan; to: Well established gene-disease association. Onset of renal failure is generally in late adulthood, though cysts are apparent earlier. Treatment: Tolvaptan |
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| Genomic newborn screening: BabyScreen+ v0.1564 | PKD2 | Zornitza Stark edited their review of gene: PKD2: Changed phenotypes: Polycystic kidney disease 2, MIM# 613095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1564 | PKD2 | Zornitza Stark reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | PKD2 |
Zornitza Stark gene: PKD2 was added gene: PKD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Polycystic kidney disease |
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