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Brugada syndrome and cardiac sodium channel disease v2.6 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from Brugada syndrome 1, 601144; MONDO_0015263 to Brugada syndrome 1, 601144; Brugada syndrome 1, MONDO:0011001
Brugada syndrome and cardiac sodium channel disease v1.45 SCN5A Ivone Leong edited their review of gene: SCN5A: 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
Brugada syndrome and cardiac sodium channel disease v1.45 SCN5A Ivone Leong commented on gene: SCN5A
Brugada syndrome and cardiac sodium channel disease v1.45 SCN5A Sarah Leigh Publications for gene: SCN5A were set to 20031634; 27761167
Brugada syndrome and cardiac sodium channel disease v1.44 SCN5A Ivone Leong Mode of inheritance for gene: SCN5A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Brugada syndrome and cardiac sodium channel disease v1.43 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from Brugada syndrome 1 to Brugada syndrome 1, 601144; MONDO_0015263
Brugada syndrome and cardiac sodium channel disease v1.42 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.38 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).
Brugada syndrome and cardiac sodium channel disease v1.37 ABCC9 Rebecca Whittington commented on gene: ABCC9: Cantu gene - Gene assoc with specific features. No clear evidence from Hu paper as associated with Brugada - phenotypes overlapping and patient has SCN5A variant. PMID:24439875
Brugada syndrome and cardiac sodium channel disease v1.37 SCN5A Rebecca Whittington commented on gene: SCN5A: Lots of literature evidence including prevalence of variants in affected individuals. PMID:20129283. PMID:23805106. PMID:24573164. PMID:22739120
Brugada syndrome and cardiac sodium channel disease v1.36 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.23 SCN5A Ellen McDonagh Source South West GLH was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Brugada syndrome and cardiac sodium channel disease v1.22 SCN5A Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was given a validity classification of Definitive by the ClinGen validity curation group and is reflected by providing a Green review here.The gene-disease summary was downloaded on 20th Feb 2019. For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10165; Changed rating: GREEN; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Definitive
Brugada syndrome and cardiac sodium channel disease v1.21 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
Brugada syndrome and cardiac sodium channel disease v1.20 SCN5A Ellen McDonagh Source London South GLH was added to SCN5A.
Brugada syndrome and cardiac sodium channel disease v1.19 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27761167, 20031634; Phenotypes: Brugada syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.18 SCN5A Ellen McDonagh Source North West GLH was added to SCN5A.
Added phenotypes Brugada syndrome 1 for gene: SCN5A
Publications for gene SCN5A were changed from 28391114 to 20031634; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.17 GPD1L Oxford Medical Genetics Laboratory commented on gene: GPD1L: PMID 17967977 - Identified variant through linkage and candidate gene approach. A280V detected in 16 phenotypically affected members of the family and in a further 27 phenotypically uncertain members. Functional studies suggest altered trafficking of SCN5A. Is in 25 of 126354 European alleles on gnomAD. PMID 17967976 - following detection of variant in PMID 17967977 this group screened SCD cases. E83K id in 3month old SCD which is in 37 of 128998 European alleles on GnomAD. PMID 17967976 - R273C in 1 month olf SIDS case which is in 12 of 111718 Europeans alleles in gnomAD. In conclusion - most variants identified to date are more frequent on gnomAD than the prevelance of Brugada syndrome which made it unlikely they are mendelian cause of disease.
Brugada syndrome and cardiac sodium channel disease SCN5A Ellen McDonagh commented on SCN5A