| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Long QT syndrome v2.12 | KCNQ1 | Ivone Leong Publications for gene: KCNQ1 were set to 19716085; 26888179; 8528244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v2.9 | KCNQ1 | Ivone Leong edited their review of gene: KCNQ1: Added comment: Penetrance for this gene has been changed from "complete" to "incomplete" based on PMID: 9927399 and also review from Claire Kirk (UCD).; Changed publications: 9927399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v2.9 | KCNQ1 |
Ivone Leong Source South West GLH was removed from KCNQ1. Source London South GLH was removed from KCNQ1. Source North West GLH was removed from KCNQ1. Penetrance for gene KCNQ1 was set from to Complete |
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| Long QT syndrome v1.44 | KCNQ1 | Ivone Leong edited their review of gene: KCNQ1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.41 | KCNQ1 | Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.41 | KCNQ1 | Ivone Leong Mode of inheritance for gene: KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.37 | KCNQ1 | Ivone Leong Publications for gene: KCNQ1 were set to 19716085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.26 | KCNQ1 | Rebecca Whittington commented on gene: KCNQ1: Atrial fibrillation, familial, 3 (OMIM 607554), Jervell and Lange-Nielsen syndrome (OMIM 220400 - AR), Long QT syndrome 1 (OMIM 192500), Short QT syndrome 2 (609621), {Long QT syndrome 1, acquired, susceptibility to} (OMIM 192500) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.25 | KCNQ1 | Rebecca Whittington commented on gene: KCNQ1: Numerous literature evidence from family studies and functional studies - established gene. PMID:19716085. PMID:17470695. PMID: 26344792. PMID: 16253915. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.24 | KCNQ1 | Rebecca Whittington reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.23 | KCNQ1 | Matthew Edwards reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LQTS-1 (192500), SQTS 2 (609621), JLNS (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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.16 | 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Long QT syndrome v1.15 | KCNQ1 | Ellen McDonagh edited their review of gene: KCNQ1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.14 | KCNQ1 | Ellen McDonagh Source London South GLH was added to KCNQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.13 | KCNQ1 | James Eden reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.12 | KCNQ1 |
Ellen McDonagh Source North West GLH was added to KCNQ1. 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 to 19716085 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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