| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Short QT syndrome v0.12 | CACNA1C | Zornitza Stark Marked gene: CACNA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | CACNA1C | Zornitza Stark Classified gene: CACNA1C as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.12 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | CACNA1C | Zornitza Stark Tag disputed tag was added to gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | CACNA1C |
Daniel Flanagan gene: CACNA1C was added gene: CACNA1C was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to PMID: 34557911 Phenotypes for gene: CACNA1C were set to Short QT syndrome Review for gene: CACNA1C was set to RED Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. 5 probands with suggested SQTS phenotype, 3 had Brugada syndrome with a relatively short QT interval, 1 had HCM without a convincing SQTS phenotype, and the 5th had a reported de novo variant that was too frequent in gnomAD to be associated with SQTS. Sources: Expert Review |
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