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| Genomic newborn screening: BabyScreen+ v1.121 | CACNA1C | Zornitza Stark Marked gene: CACNA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v1.121 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v1.121 | CACNA1C | Zornitza Stark reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 8, MIM# 618447, Timothy syndrome, MIM# 601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | CACNA1C |
Zornitza Stark Source Expert Review Amber was added to CACNA1C. Source BabySeq Category B gene was added to CACNA1C. Added phenotypes Brugada syndrome for gene: CACNA1C Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Genomic newborn screening: BabyScreen+ v0.0 | CACNA1C |
Zornitza Stark gene: CACNA1C was added gene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1C were set to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447 |
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