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Long QT syndrome v1.45 | ANK2 | Matthew Edwards changed review comment from: Gene on Royal Brompton diagnostic panel. Only VUS reported from our lab. Good evidence for association with arrhythmia phenotypes rather than classic LQTS, but gene should exist on this panel as well as larger arrhythmia panel due to possible clinical overlap/differential diagnosis; to: Gene on Royal Brompton diagnostic panel. Only VUS reported from our lab. Limited evidence for association with arrhythmia phenotypes rather than classic LQTS, and likely only rare LOF causative. But gene should possibly exist on this panel as well as larger arrhythmia panel due to possible clinical overlap/differential diagnosis? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.44 | ANK2 | Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.38 | ANK2 | James Eden reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.38 | ANK2 | James Eden Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.26 | ANK2 | Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.25 | ANK2 | Rebecca Whittington commented on gene: ANK2: Does not look like classic LQT, patients that have variants sometime asymptomatic. Some variants reported are too frequent.PMID:26132555. PMID: 16253912. PMID: 17242276. PMID:15178757. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.24 | ANK2 | Rebecca Whittington reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.23 | ANK2 | Matthew Edwards reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.23 | ANK2 | Ellen McDonagh Classified gene: ANK2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.23 | ANK2 | Ellen McDonagh Added comment: Comment on list classification: Due to the presence of lots of VUS variants in this gene for Long QT syndrome, the decision was made to demote this gene from Green to Red in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, but it should be added to/kept on the larger arrhythmia panels as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.23 | ANK2 | Ellen McDonagh Gene: ank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.16 | ANK2 | Ellen McDonagh Source South West GLH was added to ANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.15 | ANK2 | Ellen McDonagh edited their review of gene: ANK2: 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 | ANK2 | Ellen McDonagh Source London South GLH was added to ANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.13 | ANK2 | James Eden reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12571597; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Long QT syndrome v1.12 | ANK2 |
Ellen McDonagh Source North West GLH was added to ANK2. Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2 Publications for gene ANK2 were changed from to 12571597 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Long QT syndrome v1.10 | ANK2 | Oxford Medical Genetics Laboratory edited their review of gene: ANK2: Added comment: Ankyrin-B syndrome which is caused by pathogenic mutations in the ANK2 gene is a clinical entity distinct from classical Long QT syndrome. Mohler et al 2004 and Mohler et al 2007 identified that individuals with ANK2 mutations had a range of arrhythmic phenotypes - a prolonged QT interval was not always a feature. Caution should be applied when investigating variants detected in this gene as many variants that have previously been reported as pathogenic have been detected at high frequencies in ExAC. However there is good evidence that variants in this gene cause life threatening arrhythmias. Would like to see this gene on a general arrhythmia panel if not also on the LQTS panel. ; Changed rating: GREEN |