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Arrhythmogenic right ventricular cardiomyopathy v1.50 | SCN5A | Ivone Leong Publications for gene: SCN5A were set to 24317018; doi:10.1007/s12265-016-9673-5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.45 | SCN5A | Ivone Leong reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.36 | SCN5A | James Eden reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: None; Publications: 26916278, 24317018, 28069705; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.36 | SCN5A | Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.23 | SCN5A | Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154) ; Heart block, nonprogressive (113900); Long QT3 (603830) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.22 | SCN5A | Rebecca Whittington commented on gene: SCN5A: PubMED: 29567486 - core gene. Few variants on HGMD. 24317018 - I137M identified in one proband (no MAF, BI supporting). 28341781 DM origionally but downgraded to ?DM. Little evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.21 | SCN5A | Rebecca Whittington reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.20 | SCN5A |
Ellen McDonagh Source South West GLH was added to SCN5A. Mode of inheritance for gene SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Arrhythmogenic right ventricular cardiomyopathy v1.19 | SCN5A | Ellen McDonagh edited their review of gene: SCN5A: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic right ventricular cardiomyopathy v1.18 | SCN5A | Ellen McDonagh Source London South GLH was added to SCN5A. |