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| Short QT syndrome v2.10 | KCNQ1 | Sarah Leigh Phenotypes for gene: KCNQ1 were changed from Short QT syndrome 2 609621; Long QT syndrome-1 (192500); Atrial fibrillation, familial, 3 (607554); Short QT syndrome 2 (609621); Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Jervell and Lange-Nielsen syndrome (220400) to Short QT syndrome 2, OMIM:609621; Long QT syndrome-1, OMIM:192500; Atrial fibrillation, familial, 3, OMIM:607554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.23 | KCNQ1 | Ivone Leong reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | KCNQ1 | Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.19 | KCNQ1 | Ivone Leong Publications for gene: KCNQ1 were set to 16226079; 16301704 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.10 | KCNQ1 | Rebecca Whittington commented on gene: KCNQ1: Short QT syndrome 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.9 | KCNQ1 | Rebecca Whittington commented on gene: KCNQ1: 2 reported variants on HGMD 15159330 , with functional studies 26168993, 28814790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.8 | KCNQ1 | Rebecca Whittington reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | KCNQ1 | Ellen McDonagh Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | KCNQ1 | Ellen McDonagh Added comment: Comment when marking as ready: Confirmed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that this gene should be Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | KCNQ1 | Ellen McDonagh Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | KCNQ1 |
Ellen McDonagh Source South West GLH was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Short QT syndrome v1.6 | KCNQ1 | Ellen McDonagh reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | KCNQ1 | Ellen McDonagh Source London South GLH was added to KCNQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.4 | KCNQ1 | James Eden reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16226079, 16301704; Phenotypes: Long QT syndrome-1 (192500), Short QT syndrome 2 (609621), Jervell and Lange-Nielsen syndrome (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | KCNQ1 |
Ellen McDonagh Source North West GLH was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes Atrial fibrillation, familial, 3 (607554); Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1 (192500); Short QT syndrome 2 (609621) for gene: KCNQ1 Publications for gene KCNQ1 were changed from 15159330; 16109388; 26168993; 26346102; 25974115; 29697308 to 16226079; 16301704 |
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| Short QT syndrome v1.2 | KCNQ1 | Oxford Medical Genetics Laboratory reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.35 | KCNQ1 | Sarah Leigh Phenotypes for gene: KCNQ1 were changed from b; Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Short QT syndrome 2 609621 to Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Short QT syndrome 2 609621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.29 | KCNQ1 | Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.29 | KCNQ1 | Louise Daugherty Publications for gene: KCNQ1 were set to 15159330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | KCNQ1 | Olivia Niblock reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15159330; Phenotypes: Idiopathic Ventricular Fibrillation, Short QT-interval syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | KCNQ1 | Reviewer Test Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | KCNQ1 | Sarah Leigh reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | KCNQ1 |
Sarah Leigh Source Emory Genetics Laboratory was added to KCNQ1. Source Long QT syndrome (Version 1.5) was added to KCNQ1. Source Expert Review Green was added to KCNQ1. Source UKGTN was added to KCNQ1. Source Radboud University Medical Center, Nijmegen was added to KCNQ1. Added phenotypes Short QT syndrome 2 609621 for gene: KCNQ1 Rating Changed from No List (delete) to Green List (high evidence) |
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| Short QT syndrome v0.1 | KCNQ1 | Jules Hancox reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15159330, 16109388, 26168993, 26346102, 25974115, 29697308; Phenotypes: short qt, atrial fibrillation, sinus bradycardia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||