| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Short QT syndrome v1.1 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.1 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.1 | KCNQ1 | Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Short QT syndrome 1; bradycardia; atrial fibrillation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.6 | KCNQ1 | Zornitza Stark Publications for gene: KCNQ1 were set to 34557911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | KCNQ1 | Zornitza Stark Publications for gene: KCNQ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.3 | KCNQ1 | Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | KCNQ1 |
Daniel Flanagan changed review comment from: Strong evidence for autosomal dominant short QT syndrome by ClinGen and gene curation expert panel (PMID: 34557911). 9 SQTS probands reported, eight of which had the p.(Val141Met) variant. All 9 probands presented with severe bradycardia in-utero or at birth and in 6 atrial fibrillation. Reviewed as strong because most of the evidence is related to a single variant.; to: Strong evidence for autosomal dominant short QT syndrome by ClinGen and gene curation expert panel (PMID: 34557911). 9 SQTS probands reported, eight of which had the p.(Val141Met) variant. All 9 probands presented with severe bradycardia in-utero or at birth and in 6 atrial fibrillation. Reviewed as strong because most of the evidence is related to a single variant. Gain of function mechanism reported. |
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| Short QT syndrome v0.1 | KCNQ1 | Daniel Flanagan reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34557911; Phenotypes: Short QT syndrome 1, bradycardia, atrial fibrillation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.0 | KCNQ1 |
Zornitza Stark gene: KCNQ1 was added gene: KCNQ1 was added to Short QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNQ1 was set to Unknown |
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