| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genomic screening in children: BabyScreen+ v0.65 | SCN5A | Zornitza Stark Marked gene: SCN5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.65 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.65 | SCN5A | Zornitza Stark Classified gene: SCN5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.65 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.64 | SCN5A |
Zornitza Stark changed review comment from: These two associations have been rated as 'strong actionability' in paediatric patients by ClinGen. Note LongQT generally has symptom onset in adolescence and Brugada typically presents in adulthood. Reviewed with paediatric cardiologist: generally later age of onset, does not fulfil criteria for gNBS.; to: These two associations have been rated as 'strong actionability' in paediatric patients by ClinGen. Note LongQT generally has symptom onset in adolescence and Brugada typically presents in adulthood. |
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| Genomic screening in children: BabyScreen+ v0.64 | SCN5A | Zornitza Stark edited their review of gene: SCN5A: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.62 | Zornitza Stark Copied gene SCN5A from panel Genomic newborn screening: BabyScreen+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.62 | SCN5A |
Zornitza Stark gene: SCN5A was added gene: SCN5A was added to Genomic screening in children: BabyScreen+. Sources: Expert Review Amber,BabySeq Category B gene,BeginNGS cardiac, treatable tags were added to gene: SCN5A. Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN5A were set to Long QT syndrome 3 (MIM#603830); Brugada syndrome 1, MIM# 601144 |
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