| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BabyScreen+ newborn screening v1.114 | CACNA1C | Tommy Li Added phenotypes Brugada syndrome; Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447 for gene: CACNA1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||