| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Short QT syndrome v1.23 | KCNH2 | Ivone Leong reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | KCNH2 | Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.17 | KCNH2 | Ivone Leong Publications for gene: KCNH2 were set to 16226079; 16301704 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.10 | KCNH2 | Rebecca Whittington commented on gene: KCNH2: Short QT syndrome 2 (609621) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.9 | KCNH2 | Rebecca Whittington commented on gene: KCNH2: Multiple DM variants on HGMD with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.8 | KCNH2 | Rebecca Whittington reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | KCNH2 |
Ellen McDonagh Source South West GLH was added to KCNH2. Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.6 | KCNH2 | Ellen McDonagh reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | KCNH2 | Ellen McDonagh Source London South GLH was added to KCNH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.4 | KCNH2 | James Eden reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16226079, 16301704; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | KCNH2 |
Ellen McDonagh Source North West GLH was added to KCNH2. Added phenotypes Short QT syndrome 1 (609620); Long QT syndrome-2 (613688) for gene: KCNH2 Publications for gene KCNH2 were changed from 14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299 to 16226079; 16301704 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.2 | KCNH2 | Oxford Medical Genetics Laboratory reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.25 | KCNH2 | Louise Daugherty Publications for gene: KCNH2 were set to PMID:14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | KCNH2 | Sarah Leigh reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | KCNH2 |
Sarah Leigh Source UKGTN was added to KCNH2. Source Radboud University Medical Center, Nijmegen was added to KCNH2. Source Emory Genetics Laboratory was added to KCNH2. Source Expert Review Green was added to KCNH2. Source Brugada syndrome (Version 1.7) was added to KCNH2. Source Long QT syndrome (Version 1.5) was added to KCNH2. Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Short QT syndrome 1 609620 for gene: KCNH2 Rating Changed from No List (delete) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | KCNH2 |
Jules Hancox gene: KCNH2 was added gene: KCNH2 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNH2 were set to PMID:14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299 Phenotypes for gene: KCNH2 were set to short qt; atrial fibrillation; ventricular fibrillation; cardiac arrest; Brugada Mode of pathogenicity for gene: KCNH2 was set to Other Review for gene: KCNH2 was set to GREEN Added comment: Different mutations have different degrees of penetrance: N588K and T618I are 100% penetrant; some others have incomplete penetrance. The mutations are gain-of-function mutations that increase cardiac I(Kr) and abbreviate cardiac action potential duration leading to shortened QT intervals KCNH2 aka hERG (human Ether-a-go-go-Related Gene). Gene product: hERG or Kv11.1 Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||