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| Long QT Syndrome v0.7 | KCNQ1 | Ivan Macciocca reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.3 | KCNQ1 | Zornitza Stark changed review comment from: Both mono allelic and biallelic variants cause disease, no evidence for imprinting.; to: Both mono allelic and biallelic variants cause disease; excess of maternally inherited variants observed in LongQT syndrome likely linked to imprinting at this locus. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.3 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.3 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.3 | KCNQ1 | Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Atrial fibrillation, familial, 3 607554; Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, 192500; Short QT syndrome 2 609621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.2 | KCNQ1 | Zornitza Stark Publications for gene: KCNQ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.2 | KCNQ1 | Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.1 | KCNQ1 | Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 3 607554, Jervell and Lange-Nielsen syndrome 220400, Long QT syndrome 1, 192500, Short QT syndrome 2 609621; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.1 | KCNQ1 | Michelle Torres reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301308; Phenotypes: 1. Atrial fibrillation, familial, 3 607554 AD, 2. Jervell and Lange-Nielsen syndrome 220400 AR, 3. Long QT syndrome 1 192500 AD, 4. Short QT syndrome 2 609621 AD, 5. {Long QT syndrome 1, acquired, susceptibility to} 192500 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.0 | KCNQ1 |
Zornitza Stark gene: KCNQ1 was added gene: KCNQ1 was added to Long 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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