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| Short QT syndrome v0.11 | CACNA2D1 | Zornitza Stark Marked gene: CACNA2D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | CACNA2D1 | Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | CACNA2D1 | Zornitza Stark Tag disputed tag was added to gene: CACNA2D1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.10 | CACNA2D1 | Zornitza Stark Classified gene: CACNA2D1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.10 | CACNA2D1 | Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | CACNA2D1 |
Daniel Flanagan gene: CACNA2D1 was added gene: CACNA2D1 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA2D1 were set to PMID: 34557911 Phenotypes for gene: CACNA2D1 were set to Short QT syndrome Review for gene: CACNA2D1 was set to RED Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with cardiac arrest and a short QT interval, variant did not segregate with SQTS and it was present at >1% in the Ashkenazi Jewish population. Sources: Expert Review |
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