| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Short QT syndrome v0.12 | LRP5 | Sarah Leigh Publications for gene: LRP5 were set to PMID: 30309679 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | LRP5 | Sarah Leigh Classified gene: LRP5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.11 | LRP5 | Sarah Leigh Gene: lrp5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.9 | LRP5 |
Jules Hancox gene: LRP5 was added gene: LRP5 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: LRP5 was set to Unknown Publications for gene: LRP5 were set to PMID: 30309679 Phenotypes for gene: LRP5 were set to short qt Mode of pathogenicity for gene: LRP5 was set to Other Review for gene: LRP5 was set to RED Added comment: The evidence here comes from animal model of LRP5 knockout, which results in a short QT interval via modulation of calcium channel degradation. So, in principle, this shows a novel modulator of repolarization that could be implicated in SQTS. Yet to be seen patients. Sources: Literature |
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