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| BabyScreen+ newborn screening v0.2133 | SCN5A | Zornitza Stark Classified gene: SCN5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2133 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2132 | 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. For review: age of onset and penetrance.; 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. Reviewed with paediatric cardiologist: generally later age of onset, does not fulfil criteria for gNBS. |
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| BabyScreen+ newborn screening v0.2132 | SCN5A | Zornitza Stark edited their review of gene: SCN5A: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1849 | SCN5A | Zornitza Stark Classified gene: SCN5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1849 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1848 | SCN5A | Zornitza Stark Tag for review was removed from gene: SCN5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1848 | SCN5A | Zornitza Stark edited their review of gene: SCN5A: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1746 | SCN5A | Zornitza Stark Marked gene: SCN5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1746 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1746 | SCN5A | Zornitza Stark Phenotypes for gene: SCN5A were changed from Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Long QT syndrome; Heart block, progressive, type IA, MIM# 113900 to Long QT syndrome 3 (MIM#603830); Brugada syndrome 1, MIM# 601144 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1745 | SCN5A |
Zornitza Stark Tag for review tag was added to gene: SCN5A. Tag cardiac tag was added to gene: SCN5A. Tag treatable tag was added to gene: SCN5A. |
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| BabyScreen+ newborn screening v0.1745 | SCN5A | Zornitza Stark reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 3 (MIM#603830), Brugada syndrome 1, MIM# 601144; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | SCN5A |
Zornitza Stark Source Expert Review Amber was added to SCN5A. Source BabySeq Category B gene was added to SCN5A. Mode of inheritance for gene SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Long QT syndrome; Brugada syndrome for gene: SCN5A Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | SCN5A |
Zornitza Stark gene: SCN5A was added gene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900 |
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