| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Short QT syndrome v0.12 | SCN5A | Zornitza Stark Marked gene: SCN5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | SCN5A | Zornitza Stark Classified gene: SCN5A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.10 | SCN5A | Zornitza Stark Tag disputed tag was added to gene: SCN5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | SCN5A |
Daniel Flanagan gene: SCN5A was added gene: SCN5A was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to PMID: 34557911 Phenotypes for gene: SCN5A were set to Short QT syndrome Review for gene: SCN5A was set to RED Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with a rare SCN5A variant, however, the expert panel regarded this phenotype as being concordant with Brugada syndrome and not SQTS. Sources: Expert Review |
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