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Brugada syndrome and cardiac sodium channel disease v3.8 SCN1B Arina Puzriakova Phenotypes for gene: SCN1B were changed from Brugada syndrome 5, OMIM:612838 to Cardiac conduction defect, nonspecific, OMIM:612838; Brugada syndrome 5, OMIM:612838; Atrial fibrillation, familial, 13, OMIM:615377
Brugada syndrome and cardiac sodium channel disease v3.7 SCN1B Arina Puzriakova Mode of inheritance for gene: SCN1B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Brugada syndrome and cardiac sodium channel disease v3.6 SCN1B Arina Puzriakova Tag disputed tag was added to gene: SCN1B.
Brugada syndrome and cardiac sodium channel disease v3.3 Eleanor Williams Panel version 3.2 has been signed off on 2023-03-22
Brugada syndrome and cardiac sodium channel disease v3.2 Arina Puzriakova Panel name changed from Brugada syndrome to Brugada syndrome and cardiac sodium channel disease
List of related panels changed from R128 to Brugada syndrome; R128
Brugada syndrome and cardiac sodium channel disease v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-11-30
Brugada syndrome and cardiac sodium channel disease v3.0 Arina Puzriakova promoted panel to version 3.0
Brugada syndrome and cardiac sodium channel disease v2.33 KCNJ8 Ivone Leong Phenotypes for gene: KCNJ8 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.32 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119) to ?Brugada syndrome 6, OMIM:613119
Brugada syndrome and cardiac sodium channel disease v2.31 CAV3 Ivone Leong Phenotypes for gene: CAV3 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.30 CACNA2D1 Ivone Leong Phenotypes for gene: CACNA2D1 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.29 KCNH2 Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.28 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.27 TRPM4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Progressive familial heart block, type IB 604559
Brugada syndrome and cardiac sodium channel disease v2.27 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559; Progressive familial heart block, type IB (604559) to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.26 SLMAP Ivone Leong Phenotypes for gene: SLMAP were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.25 SCN3B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 16 (613120)
Brugada syndrome and cardiac sodium channel disease v2.25 SCN3B Ivone Leong Phenotypes for gene: SCN3B were changed from Brugada syndrome 7; Atrial fibrillation, familial, 16 (613120); Brugada syndrome 7 (613120) to Brugada syndrome 7, OMIM:613120
Brugada syndrome and cardiac sodium channel disease v2.24 SCN2B Ivone Leong Phenotypes for gene: SCN2B were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.23 SCN1B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac conduction defect, nonspecific (612838), Atrial fibrillation, familial, 13 (615377), Epileptic encephalopathy, early infantile, 52 (617350), Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
Brugada syndrome and cardiac sodium channel disease v2.23 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Brugada syndrome 5; Brugada syndrome 5 (612838); Epileptic encephalopathy, early infantile, 52 (617350); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) to Brugada syndrome 5, OMIM:612838
Brugada syndrome and cardiac sodium channel disease v2.22 SCN10A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Episodic pain syndrome, familial, 2 (615551)
Brugada syndrome and cardiac sodium channel disease v2.22 SCN10A Ivone Leong Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2 (615551) to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.21 RANGRF Ivone Leong Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.20 RANGRF Ivone Leong Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.19 PKP2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 9 (609040), Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy
Brugada syndrome and cardiac sodium channel disease v2.19 PKP2 Ivone Leong Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 (609040); Brugada syndrome; Arrhythmogenic right ventricular cardiomyopathy ; Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.18 KCNE5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with atrial fibrillation
Brugada syndrome and cardiac sodium channel disease v2.18 KCNE5 Ivone Leong Phenotypes for gene: KCNE5 were changed from atrial fibrillation; Brugada syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.17 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119); Brugada syndrome 6 to ?Brugada syndrome 6 (613119)
Brugada syndrome and cardiac sodium channel disease v2.16 KCND3 Ivone Leong Phenotypes for gene: KCND3 were changed from Brugada/Brugada like syndrome to Brugada syndrome 9, OMIM:616399
Brugada syndrome and cardiac sodium channel disease v2.15 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777) to Brugada syndrome 2, OMIM:611777
Brugada syndrome and cardiac sodium channel disease v2.14 HCN4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Sick sinus syndrome 2 (163800)
Brugada syndrome and cardiac sodium channel disease v2.14 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from Sick sinus syndrome 2 (163800); Brugada syndrome 8; Brugada syndrome 8 (613123) to Brugada syndrome 8, OMIM:613123
Brugada syndrome and cardiac sodium channel disease v2.13 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777); Brugada syndrome 2 to Brugada syndrome 2 (611777)
Brugada syndrome and cardiac sodium channel disease v2.12 DLG1 Ivone Leong Phenotypes for gene: DLG1 were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.11 CACNB2 Ivone Leong Phenotypes for gene: CACNB2 were changed from Brugada syndrome 4; Brugada syndrome 4 (611876) to Brugada syndrome 4 (611876)
Brugada syndrome and cardiac sodium channel disease v2.10 CACNA1C Ivone Leong Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 to Brugada syndrome 3, MONDO:0012742
Brugada syndrome and cardiac sodium channel disease v2.9 ANK2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919)
Brugada syndrome and cardiac sodium channel disease v2.9 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from Long QT syndrome 4 (600919); Cardiac arrhythmia, ankyrin-B-related (600919); Brugada/Brugada like syndrome to Brugada/Brugada like syndrome
Brugada syndrome and cardiac sodium channel disease v2.8 ABCC9 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiomyopathy, dilated, 1O (608569), Atrial fibrillation, familial, 12 (614050) and Dilated cardiomyopathy
Brugada syndrome and cardiac sodium channel disease v2.8 ABCC9 Ivone Leong Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O (608569); Brugada syndrome; Atrial fibrillation, familial, 12 (614050); Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.7 KCNH2 Ivone Leong Added comment: Comment on phenotypes: KCNH2 is also associated with Long QT syndrome 2, OMIM:613688 and Short QT syndrome 1, OMIM:609620
Brugada syndrome and cardiac sodium channel disease v2.7 KCNH2 Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620 to Brugada/Brugada like syndrome
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 v2.5 Ivone Leong Panel version has been signed off
Brugada syndrome and cardiac sodium channel disease v2.3 Sarah Leigh Panel version has been signed off
Brugada syndrome and cardiac sodium channel disease v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Brugada syndrome and cardiac sodium channel disease v2.0 Ivone Leong promoted panel to version 2.0
Brugada syndrome and cardiac sodium channel disease v1.47 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Brugada syndrome and cardiac sodium channel disease v1.46 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
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 KCNH2 James Eden reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: None; Publications: 24400717, 23874304, 16043162; Phenotypes: Long QT syndrome 2 613688, Short QT syndrome 1 609620; Mode of inheritance: 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 v1.42 Ivone Leong List of related panels changed from to R128
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Classified gene: KCNH2 as Amber List (moderate evidence)
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to additional expert review from the South West GLH and ClinGen group conclusion that there is not enough evidence for this to be involved in Brugada syndrome. Final decision to be made by the NHSE GMS specialist group.
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Gene: kcnh2 has been classified as Amber List (Moderate Evidence).
Brugada syndrome and cardiac sodium channel disease v1.38 SCN2B Rebecca Whittington commented on gene: SCN2B: Atrial fibrillation, familial, 14 (OMIM 615378)
Brugada syndrome and cardiac sodium channel disease v1.38 RANGRF Rebecca Whittington commented on gene: RANGRF: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (OMIM 609040)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNJ8 Rebecca Whittington commented on gene: KCNJ8: Only possible links with Brugada (OMIM 601144)) and Cantu (OMIM 23985) -VUS only
Brugada syndrome and cardiac sodium channel disease v1.38 KCNH2 Rebecca Whittington commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)
Brugada syndrome and cardiac sodium channel disease v1.38 KCND3 Rebecca Whittington commented on gene: KCND3: Brugada syndrome 9 (OMIM 616399), Spinocerebellar ataxia 19 (OMIM 607346).
Brugada syndrome and cardiac sodium channel disease v1.38 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).
Brugada syndrome and cardiac sodium channel disease v1.38 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)
Brugada syndrome and cardiac sodium channel disease v1.38 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Brugada syndrome and cardiac sodium channel disease v1.38 ABCC9 Rebecca Whittington commented on gene: ABCC9: Atrial fibrillation, familial, 12 (OMIM 614050), Cardiomyopathy, dilated, 1O (OMIM 608569), Hypertrichotic osteochondrodysplasia (Cantu -OMIM 239850)
Brugada syndrome and cardiac sodium channel disease v1.38 TRPM4 Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (OMIM 604559)
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 v1.38 SCN3B Rebecca Whittington commented on gene: SCN3B: Atrial fibrillation, familial, 16 (OMIM 613120), Brugada syndrome 7 (OMIM 613120)
Brugada syndrome and cardiac sodium channel disease v1.38 SCN1B Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 (OMIM 615377), Brugada syndrome 5 (OMIM 612838), Cardiac conduction defect, nonspecific (OMIM 612838), Epilepsy, generalized, with febrile seizures plus, type 1 (OMIM 604233), Epileptic encephalopathy, early infantile, 52 (OMIM 617350 - AR).
Brugada syndrome and cardiac sodium channel disease v1.38 SCN10A Rebecca Whittington commented on gene: SCN10A: Episodic pain syndrome, familial, 2 (OMIM 615551), PR Interval, variation in (OMIM %108980)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE3 Rebecca Whittington commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)
Brugada syndrome and cardiac sodium channel disease v1.38 HCN4 Rebecca Whittington commented on gene: HCN4: Brugada syndrome 8 (OMIM 613123), Sick sinus syndrome 2 (OMIM 163800)
Brugada syndrome and cardiac sodium channel disease v1.38 GPD1L Rebecca Whittington commented on gene: GPD1L: Brugada syndrome 2 (OMIM 611777)
Brugada syndrome and cardiac sodium channel disease v1.38 CACNB2 Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 (OMIM 611876)
Brugada syndrome and cardiac sodium channel disease v1.38 SLMAP Rebecca Whittington commented on gene: SLMAP: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE5 Rebecca Whittington commented on gene: KCNE5: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 DLG1 Rebecca Whittington commented on gene: DLG1: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.37 SCN2B Rebecca Whittington commented on gene: SCN2B: Only a couple of publications - some frequency associated with the variants described. Variant described in the Riuro paper rare strong BI and some functional evidence. But Watanabe variants look less convincing.PMID:19808477. https://www.ncbi.nlm.nih.gov/pubmed/23559163?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 RANGRF Rebecca Whittington commented on gene: RANGRF: Some frequency >1% associated with the variant described in the Olesen paper (21621375). Uncertain role for this gene concluded in Campuzano paper (24142675). Literature suggests that this could be a 'susceptibility' gene. https://www.ncbi.nlm.nih.gov/pubmed/21621375?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24142675?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21447824?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 PKP2 Rebecca Whittington commented on gene: PKP2: Gene mainly associated with ARVC. NO strong evidence for Brugada - only 1 publication. PMID:24352520
Brugada syndrome and cardiac sodium channel disease v1.37 KCNJ8 Rebecca Whittington commented on gene: KCNJ8: NO evidence of association with Brugada Syndrome. 23632791. Variant reported here is very frequent on Gnomad especially Ashkenazi Jews
Brugada syndrome and cardiac sodium channel disease v1.37 KCNH2 Rebecca Whittington commented on gene: KCNH2: Overwhelming evidence for LQT. No strong evidence for Brugada. PMID:25626866. https://www.ncbi.nlm.nih.gov/pubmed/24400717. https://www.ncbi.nlm.nih.gov/pubmed/16043162
Brugada syndrome and cardiac sodium channel disease v1.37 KCND3 Rebecca Whittington commented on gene: KCND3: Gene mainly assoc with ataxia /intellectual disability. NO strong evidence in the Giudicessi paper - both variants described do not have strong BI and some frequency on GnomAD. PMID:21349352. PMID:22840528. https://www.ncbi.nlm.nih.gov/pubmed/22284586?dopt=Abstract. https://pdfs.semanticscholar.org/496b/e70141f03f188a0215693739efed9ae36573.pdf.
Brugada syndrome and cardiac sodium channel disease v1.37 CAV3 Rebecca Whittington commented on gene: CAV3: NO evidence for Brugada Syndrome. More assoc with LQT but even that is weak. PMID: 26132555. https://www.ncbi.nlm.nih.gov/pubmed/17060380?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24021552
Brugada syndrome and cardiac sodium channel disease v1.37 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: 3 / 4 variants reported in this gene in the paper have frequency / high frequency on GnomAD and mixed BI. No strong evidence presented in PMID 20817017. PMID:25527503. PMID:21383000.
Brugada syndrome and cardiac sodium channel disease v1.37 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Couple of reports suggesting association with Short QT arrhythmia and Timothy Syndome. One variant which is reported has very high frequency on GnomAD and mixed BI. Another variant has no frequency and mixed BI. (PMID 1722476) Needs Review as not typical Brugada. PMID:20817017. PMID:25184293
Brugada syndrome and cardiac sodium channel disease v1.37 ANK2 Rebecca Whittington commented on gene: ANK2: No strong evidence for Brugada. Phenotype does not seem to be clear in paper. Possible modifier gene. PMID:15178757. https://www.ncbi.nlm.nih.gov/pubmed/17242276?dopt=Abstract
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 TRPM4 Rebecca Whittington commented on gene: TRPM4: Literature evidence including prevalence of variants in affected individuals and functional evidence. However appears mainly assoc with heart block /PCCD. PMID:23382873. PMID:29568272. https://www.ncbi.nlm.nih.gov/pubmed/21887725?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/26820365?dopt=Abstract
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 v1.37 SCN3B Rebecca Whittington commented on gene: SCN3B: Literature evidence including functional studies. PMID:20558140. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 SCN1B Rebecca Whittington commented on gene: SCN1B: Literature evidence includes cosegregation and functional evidence. PMID:18464934. PMID:25253298. PMID:28878239
Brugada syndrome and cardiac sodium channel disease v1.37 SCN10A Rebecca Whittington commented on gene: SCN10A: Rare. Evidence for association SNP / polygenic contribution Largest study in Hu paper PMID:24998131. PMID:25691538. PMID:25691686. PMID:25053638. https://www.ncbi.nlm.nih.gov/pubmed/28407228?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE3 Rebecca Whittington commented on gene: KCNE3: Reported in Japanese patient with ?apparent functional effect but also recorded 36x on GnomAD and not strong BI. Also variant in Delpon paper recorder 26 times on GnomAD and mixed reviews. Needs review as no clear association. PMID:19122847. https://www.karger.com/Article/Abstract/113746. https://www.karger.com/Article/Abstract/113746
Brugada syndrome and cardiac sodium channel disease v1.37 HCN4 Rebecca Whittington commented on gene: HCN4: Milano (2014) paper (25145517) showed segregation / ?functional effect. Macri paper (24607718) showed functional effect. PMID: 27553229. https://ac.els-cdn.com/S0735109716015862/1-s2.0-S0735109716015862-main.pdf?_tid=89c56f79-58d9-413a-a162-598c96f24a0b&acdnat=1546869351_0c665867a80ab79d2af032616efe9099
Brugada syndrome and cardiac sodium channel disease v1.37 GPD1L Rebecca Whittington commented on gene: GPD1L: Variant described in the London paper is recorded 36x on GnomAD. Also several asymptomatic patients have the variant. Variant described in the Huang paper describes nonsense variant assoc with SID that segregated in the family but 36 x on GnomAD. Other variants listed on OMIM as pathogenic at very high frequency on gnomAD. Evidence is not strong for monogenic cause. PMID:17967977. PMID:29077258. PMID:17967976
Brugada syndrome and cardiac sodium channel disease v1.37 CACNB2 Rebecca Whittington commented on gene: CACNB2: Not much evidence for this gene. Variant described in Cardeiro paper (19358333) is not convincing. Other variant from Antzelevitch paper (17224476) tracks in family with Brugada, ? Functional evidence and strong BI and no frequency.PMID:22840528
Brugada syndrome and cardiac sodium channel disease v1.37 SLMAP Rebecca Whittington commented on gene: SLMAP: No strong evidence for this gene. Only one report - variant described does not come up on Alamut. The Val269Ile variant is sufficiently rare but not enough information. https://www.ncbi.nlm.nih.gov/pubmed/23064965?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE5 Rebecca Whittington commented on gene: KCNE5: NO strong evidence for this gene. Only one report - not enough information in report to look at variant in Alamut. PMID:18313602
Brugada syndrome and cardiac sodium channel disease v1.37 DLG1 Rebecca Whittington commented on gene: DLG1: No strong evidence for this gene
Brugada syndrome and cardiac sodium channel disease v1.36 SCN2B Rebecca Whittington reviewed gene: SCN2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 RANGRF Rebecca Whittington reviewed gene: RANGRF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNJ8 Rebecca Whittington reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCND3 Rebecca Whittington reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNA2D1 Rebecca Whittington reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 ABCC9 Rebecca Whittington reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 TRPM4 Rebecca Whittington reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
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 v1.36 SCN3B Rebecca Whittington reviewed gene: SCN3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SCN10A Rebecca Whittington reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 KCNE3 Rebecca Whittington reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 HCN4 Rebecca Whittington reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 GPD1L Rebecca Whittington reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 CACNB2 Rebecca Whittington reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.36 SLMAP Rebecca Whittington reviewed gene: SLMAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Brugada syndrome and cardiac sodium channel disease v1.36 KCNE5 Rebecca Whittington reviewed gene: KCNE5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Brugada syndrome and cardiac sodium channel disease v1.36 DLG1 Rebecca Whittington reviewed gene: DLG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Brugada syndrome and cardiac sodium channel disease v1.35 KCNH2 Louise Daugherty Classified gene: KCNH2 as Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.35 KCNH2 Louise Daugherty Added comment: Comment on list classification: After clinical review it was felt there was enough evidence to promote to green. The external reviewer outlines 3 cases with a Brugada / mixed Brugada and SQTS phenotype with missense variants in this gene which meets our threshold.. It is possible there is a gain of function mechanism here. Further cases will help to define the mutational spectrum and the predominant phenotype e.g. SQTS / Brugada.
Brugada syndrome and cardiac sodium channel disease v1.35 KCNH2 Louise Daugherty Gene: kcnh2 has been classified as Green List (High Evidence).
Brugada syndrome and cardiac sodium channel disease v1.34 KCNH2 Louise Daugherty Tag missense tag was added to gene: KCNH2.
Brugada syndrome and cardiac sodium channel disease v1.34 KCNE5 Ellen McDonagh Classified gene: KCNE5 as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.34 KCNE5 Ellen McDonagh Gene: kcne5 has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.33 SCN2B Ellen McDonagh Classified gene: SCN2B as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.33 SCN2B Ellen McDonagh Gene: scn2b has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.32 DLG1 Ellen McDonagh Classified gene: DLG1 as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.32 DLG1 Ellen McDonagh Gene: dlg1 has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.31 TRPM4 Ellen McDonagh Classified gene: TRPM4 as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.31 TRPM4 Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.31 TRPM4 Ellen McDonagh Gene: trpm4 has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.30 SCN3B Ellen McDonagh Classified gene: SCN3B as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.30 SCN3B Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.30 SCN3B Ellen McDonagh Gene: scn3b has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.29 SCN1B Ellen McDonagh Classified gene: SCN1B as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.29 SCN1B Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.29 SCN1B Ellen McDonagh Gene: scn1b has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.28 SCN10A Ellen McDonagh Classified gene: SCN10A as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.28 SCN10A Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.28 SCN10A Ellen McDonagh Gene: scn10a has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.27 KCNE3 Ellen McDonagh Classified gene: KCNE3 as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.27 KCNE3 Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.27 KCNE3 Ellen McDonagh Gene: kcne3 has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.26 HCN4 Ellen McDonagh Classified gene: HCN4 as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.26 HCN4 Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.26 HCN4 Ellen McDonagh Gene: hcn4 has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.25 GPD1L Ellen McDonagh Classified gene: GPD1L as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.25 GPD1L Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.25 GPD1L Ellen McDonagh Gene: gpd1l has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.24 CACNB2 Ellen McDonagh Classified gene: CACNB2 as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.24 CACNB2 Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.24 CACNB2 Ellen McDonagh Gene: cacnb2 has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.23 SLMAP Ellen McDonagh Source South West GLH was added to SLMAP.
Mode of inheritance for gene SLMAP was changed from to Unknown
Brugada syndrome and cardiac sodium channel disease v1.23 SCN2B Ellen McDonagh Source South West GLH was added to SCN2B.
Mode of inheritance for gene SCN2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Red List (low evidence) to No List (delete)
Brugada syndrome and cardiac sodium channel disease v1.23 RANGRF Ellen McDonagh Source South West GLH was added to RANGRF.
Mode of inheritance for gene RANGRF was changed from to Unknown
Brugada syndrome and cardiac sodium channel disease v1.23 PKP2 Ellen McDonagh Source South West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.23 KCNJ8 Ellen McDonagh Source South West GLH was added to KCNJ8.
Mode of inheritance for gene KCNJ8 was changed from to Unknown
Brugada syndrome and cardiac sodium channel disease v1.23 KCNH2 Ellen McDonagh Source South West GLH was added to KCNH2.
Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.23 KCNE5 Ellen McDonagh Source South West GLH was added to KCNE5.
Mode of inheritance for gene KCNE5 was changed from to Unknown
Rating Changed from Red List (low evidence) to No List (delete)
Brugada syndrome and cardiac sodium channel disease v1.23 KCND3 Ellen McDonagh Source South West GLH was added to KCND3.
Mode of inheritance for gene KCND3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.23 DLG1 Ellen McDonagh Source South West GLH was added to DLG1.
Mode of inheritance for gene DLG1 was changed from to Unknown
Rating Changed from Red List (low evidence) to No List (delete)
Brugada syndrome and cardiac sodium channel disease v1.23 CAV3 Ellen McDonagh Source South West GLH was added to CAV3.
Mode of inheritance for gene CAV3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.23 CACNA2D1 Ellen McDonagh Source South West GLH was added to CACNA2D1.
Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome and cardiac sodium channel disease v1.23 CACNA1C Ellen McDonagh Source South West GLH was added to CACNA1C.
Mode of inheritance for gene CACNA1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.23 ANK2 Ellen McDonagh Source South West GLH was added to ANK2.
Brugada syndrome and cardiac sodium channel disease v1.23 ABCC9 Ellen McDonagh Source South West GLH was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.23 TRPM4 Ellen McDonagh Source South West GLH was added to TRPM4.
Mode of inheritance for gene TRPM4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v1.23 SCN3B Ellen McDonagh Source South West GLH was added to SCN3B.
Mode of inheritance for gene SCN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.23 SCN1B Ellen McDonagh Source South West GLH was added to SCN1B.
Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Brugada syndrome and cardiac sodium channel disease v1.23 SCN10A Ellen McDonagh Source South West GLH was added to SCN10A.
Mode of inheritance for gene SCN10A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome and cardiac sodium channel disease v1.23 KCNE3 Ellen McDonagh Source South West GLH was added to KCNE3.
Mode of inheritance for gene KCNE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome and cardiac sodium channel disease v1.23 HCN4 Ellen McDonagh Source South West GLH was added to HCN4.
Mode of inheritance for gene HCN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.23 GPD1L Ellen McDonagh Source South West GLH was added to GPD1L.
Mode of inheritance for gene GPD1L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome and cardiac sodium channel disease v1.23 CACNB2 Ellen McDonagh Source South West GLH was added to CACNB2.
Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome and cardiac sodium channel disease v1.22 SCN3B Ellen McDonagh edited their review of gene: SCN3B: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10160; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 SCN2B Ellen McDonagh reviewed gene: SCN2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome 1, MONDO_0011001; Mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 SCN1B Ellen McDonagh edited their review of gene: SCN1B: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10158; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 SCN10A Ellen McDonagh edited their review of gene: SCN10A: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10161; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 PKP2 Ellen McDonagh edited their review of gene: PKP2: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10156; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 KCNJ8 Ellen McDonagh edited their review of gene: KCNJ8: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10155; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 KCND3 Ellen McDonagh edited their review of gene: KCND3: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10151; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 HCN4 Ellen McDonagh edited their review of gene: HCN4: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10150; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 GPD1L Ellen McDonagh edited their review of gene: GPD1L: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10149; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 CACNB2 Ellen McDonagh edited their review of gene: CACNB2: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10148; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 CACNA2D1 Ellen McDonagh edited their review of gene: CACNA2D1: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10147; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 TRPM4 Ellen McDonagh edited their review of gene: TRPM4: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10164; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 SLMAP Ellen McDonagh reviewed gene: SLMAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 RANGRF Ellen McDonagh edited their review of gene: RANGRF: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10157; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 KCNH2 Ellen McDonagh reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 KCNE5 Ellen McDonagh reviewed gene: KCNE5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 KCNE3 Ellen McDonagh edited their review of gene: KCNE3: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10152; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 CACNA1C Ellen McDonagh edited their review of gene: CACNA1C: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red 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/10146; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.22 ANK2 Ellen McDonagh reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed
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 TRPM4 Ellen McDonagh reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: 21887725, 23382873; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 RANGRF Ellen McDonagh reviewed gene: RANGRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 PKP2 Ellen McDonagh edited their review of gene: PKP2: 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 v1.21 KCNJ8 Ellen McDonagh reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 KCND3 Ellen McDonagh reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 CACNA2D1 Ellen McDonagh reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 CACNA1C Ellen McDonagh reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v1.21 SCN3B Ellen McDonagh reviewed gene: SCN3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 SCN1B Ellen McDonagh reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 SCN10A Ellen McDonagh reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 KCNE3 Ellen McDonagh reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 HCN4 Ellen McDonagh reviewed gene: HCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 GPD1L Ellen McDonagh reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.21 CACNB2 Ellen McDonagh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.20 RANGRF Ellen McDonagh Source London South GLH was added to RANGRF.
Brugada syndrome and cardiac sodium channel disease v1.20 PKP2 Ellen McDonagh Source London South GLH was added to PKP2.
Brugada syndrome and cardiac sodium channel disease v1.20 KCNJ8 Ellen McDonagh Source London South GLH was added to KCNJ8.
Brugada syndrome and cardiac sodium channel disease v1.20 KCND3 Ellen McDonagh Source London South GLH was added to KCND3.
Brugada syndrome and cardiac sodium channel disease v1.20 CACNA2D1 Ellen McDonagh Source London South GLH was added to CACNA2D1.
Brugada syndrome and cardiac sodium channel disease v1.20 CACNA1C Ellen McDonagh Source London South GLH was added to CACNA1C.
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 v1.20 SCN3B Ellen McDonagh Source London South GLH was added to SCN3B.
Brugada syndrome and cardiac sodium channel disease v1.20 SCN1B Ellen McDonagh Source London South GLH was added to SCN1B.
Brugada syndrome and cardiac sodium channel disease v1.20 SCN10A Ellen McDonagh Source London South GLH was added to SCN10A.
Brugada syndrome and cardiac sodium channel disease v1.20 KCNE3 Ellen McDonagh Source London South GLH was added to KCNE3.
Brugada syndrome and cardiac sodium channel disease v1.20 HCN4 Ellen McDonagh Source London South GLH was added to HCN4.
Brugada syndrome and cardiac sodium channel disease v1.20 GPD1L Ellen McDonagh Source London South GLH was added to GPD1L.
Brugada syndrome and cardiac sodium channel disease v1.20 CACNB2 Ellen McDonagh Source London South GLH was added to CACNB2.
Brugada syndrome and cardiac sodium channel disease v1.19 TRPM4 James Eden reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 23382873, 27761167; Phenotypes: Progressive familial heart block, type IB (604559); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
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 v1.19 SCN3B James Eden reviewed gene: SCN3B: Rating: RED; Mode of pathogenicity: ; Publications: 23257389, 27761167; Phenotypes: Atrial fibrillation, familial, 16 (613120), Brugada syndrome 7 (613120); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 SCN1B James Eden reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: ; Publications: 25253298, 27761167; Phenotypes: Atrial fibrillation, familial, 13 (615377), Brugada syndrome 5 (612838), Cardiac conduction defect, nonspecific (612838), Epilepsy, generalized, with febrile seizures plus, type 1 (604233), Epileptic encephalopathy, early infantile, 52 (617350); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 SCN10A James Eden reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: 24998131, 27761167; Phenotypes: Episodic pain syndrome, familial, 2 (615551); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 PKP2 James Eden reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 27085656, 27761167; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 KCNE3 James Eden reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: 19122847, 27761167; Phenotypes: ?Brugada syndrome 6 (613119); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 HCN4 James Eden reviewed gene: HCN4: Rating: RED; Mode of pathogenicity: ; Publications: 27761167; Phenotypes: Brugada syndrome 8 (613123), Sick sinus syndrome 2 (163800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 GPD1L James Eden reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: ; Publications: 19666841, 27761167; Phenotypes: Brugada syndrome 2 (611777); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 CACNB2 James Eden reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: 17224476, 27761167; Phenotypes: Brugada syndrome 4 (611876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 CACNA2D1 James Eden reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: 20817017, 17224476, 27761167; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 ANK2 James Eden reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: 27818464, 27761167; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 ABCC9 James Eden reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: 24439875, 27761167; Phenotypes: Atrial fibrillation, familial, 12 (614050), Cardiomyopathy, dilated, 1O (608569); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.18 TRPM4 Ellen McDonagh Source North West GLH was added to TRPM4.
Added phenotypes Progressive familial heart block, type IB (604559) for gene: TRPM4
Publications for gene TRPM4 were changed from http://www.ncbi.nlm.nih.gov/pubmed/23382873 to 23382873; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
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 v1.18 SCN3B Ellen McDonagh Source North West GLH was added to SCN3B.
Added phenotypes Atrial fibrillation, familial, 16 (613120); Brugada syndrome 7 (613120) for gene: SCN3B
Publications for gene SCN3B were changed from to 23257389; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 SCN1B Ellen McDonagh Source North West GLH was added to SCN1B.
Added phenotypes Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Brugada syndrome 5 (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) for gene: SCN1B
Publications for gene SCN1B were changed from to 25253298; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 SCN10A Ellen McDonagh Source North West GLH was added to SCN10A.
Added phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A
Publications for gene SCN10A were changed from http://www.ncbi.nlm.nih.gov/pubmed/24998131 to 24998131; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 PKP2 Ellen McDonagh Source North West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2
Publications for gene PKP2 were changed from 24352520; doi:10.​1007/​s12265-016-9673-5 to 27085656; 27761167
Brugada syndrome and cardiac sodium channel disease v1.18 KCNE3 Ellen McDonagh Source North West GLH was added to KCNE3.
Added phenotypes ?Brugada syndrome 6 (613119) for gene: KCNE3
Publications for gene KCNE3 were changed from to 19122847; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 HCN4 Ellen McDonagh Source North West GLH was added to HCN4.
Added phenotypes Sick sinus syndrome 2 (163800); Brugada syndrome 8 (613123) for gene: HCN4
Publications for gene HCN4 were changed from to 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 GPD1L Ellen McDonagh Source North West GLH was added to GPD1L.
Added phenotypes Brugada syndrome 2 (611777) for gene: GPD1L
Publications for gene GPD1L were changed from to 27761167; 19666841
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 CACNB2 Ellen McDonagh Source North West GLH was added to CACNB2.
Added phenotypes Brugada syndrome 4 (611876) for gene: CACNB2
Publications for gene CACNB2 were changed from to 17224476; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 CACNA2D1 Ellen McDonagh Source North West GLH was added to CACNA2D1.
Mode of inheritance for gene CACNA2D1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene CACNA2D1 were changed from to 17224476; 20817017; 27761167
Brugada syndrome and cardiac sodium channel disease v1.18 ANK2 Ellen McDonagh Source North West GLH was added to ANK2.
Mode of inheritance for gene ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2
Publications for gene ANK2 were changed from to 27761167; 27818464
Brugada syndrome and cardiac sodium channel disease v1.18 ABCC9 Ellen McDonagh Source North West GLH was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9
Publications for gene ABCC9 were changed from 24439875; doi:10.​1007/​s12265-016-9673-5 to 27761167; 24439875
Brugada syndrome and cardiac sodium channel disease v1.17 HCN4 Oxford Medical Genetics Laboratory edited their review of gene: HCN4: Added comment: Mouse studies suggest homozygous knockout is embryonic lethal. Heterozygous littermates were phenotypically indistinguishable from WT. Most variants reported are in sick sinus syndrome or with sinus bradycardia. 2 variants id in this gene in isolated cases of brugada syndrome (1 was asymptomatic) - minimal evidence suggesting pathogenicity for BS. Suggest Red gene for BS - Green gene for sick sinus syndrome - Green gene on molecular autopsy panel. ; Changed rating: RED
Brugada syndrome and cardiac sodium channel disease v1.17 TRPM4 Oxford Medical Genetics Laboratory commented on gene: TRPM4: Evidence of variants in this gene leading to progressive familial heart block but not for BS.
Brugada syndrome and cardiac sodium channel disease v1.17 SCN3B Oxford Medical Genetics Laboratory commented on gene: SCN3B: L10P variant reported in isolated male case with BS. L10P = 56 / 64583 (0.09 percentage) European individuals on gnomAD. Therefore no supportive evidence.
Brugada syndrome and cardiac sodium channel disease v1.17 SCN1B Oxford Medical Genetics Laboratory commented on gene: SCN1B: Small number of variants reported to be pathogenic on ClinVar detected in an array of different patient cohorts including AF BS epilepsy cardiomyopathy conduction defects and epileptic encephalopathy. PMID 29758173 reports lack of genotype or phenotype correlations in families with BS or SADS with previously thought to be pathogenic variants in SCN1B.
Brugada syndrome and cardiac sodium channel disease v1.17 SCN10A Oxford Medical Genetics Laboratory commented on gene: SCN10A: On ClinVar just 1 variant in this gene is classified as pathogenic however it was detected in someone with episodic pain syndrome (not BS). All variants detected in Brugada syndrome (>100) classed as UV suggesting there is an absence of fundamental evidence that variants in this gene cause BS. Many of the variants detected in early reports of in this gene were later noted to have relatively high frequencies in populations therefore caution should be applied to previous case reports e.g. Hu et al 2014.
Brugada syndrome and cardiac sodium channel disease v1.17 KCNE3 Oxford Medical Genetics Laboratory commented on gene: KCNE3: Variants detected in individuals with 2 different phenotypes - Brugada syndrome and periodic paralysis. Abbot et al report expression at low levels in the heart. 2 variants reported: T4A which we would consider unlikely / polymorphism (0.4 percentage of East Asians on gnomAD). R99H - which has conflicting interpretations on ClinVar (unlikely UV likely and pathogenic). Could be a potential candidate gene but zero evidence at present.
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 v1.17 CACNB2 Oxford Medical Genetics Laboratory commented on gene: CACNB2: PMID 17224476 - Describe a new clinical entity consisting of ST-segment elevation V1-V3 and shorter than normal QTc. S481L segregation with ST elevation and shortened QTc with ajmaline challenge in 6 family members; only the proband and brother are described as symptomatic. PMID 19358333 - T11I variant identified in proband presenting with syncope St elevation negative T-wave QTc428. T11I is in a minor transcript that has an alternative exon 1. No details about family. PMID 22840528 - report 2 probands with variants in CACNB2B: V340I (found in 13 of 113696 European alleles on gnomAD) and E499D (found in 7 of 35436 Latino alleles on gnomAD). In conclusion - insufficient evidence for any one or combination of these variants to constitute high evidence.
Brugada syndrome and cardiac sodium channel disease v1.16 TRPM4 Eleanor Williams Added comment: Comment on phenotypes: Added phenotype from OMIM
Brugada syndrome and cardiac sodium channel disease v1.16 TRPM4 Eleanor Williams Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB 604559
Brugada syndrome and cardiac sodium channel disease v1.14 KCNH2 Sarah Leigh Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620
Brugada syndrome and cardiac sodium channel disease v1.13 KCNH2 Sarah Leigh Publications for gene: KCNH2 were set to
Brugada syndrome and cardiac sodium channel disease v1.12 KCNH2 Sarah Leigh Mode of inheritance for gene: KCNH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Brugada syndrome and cardiac sodium channel disease v1.11 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Brugada syndrome and cardiac sodium channel disease v1.10 KCNH2 Jules Hancox reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 16043162, 19174314, 18692916; Phenotypes: Brugada syndrome, long QT syndrome, short QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.10 KCNE5 Sarah Leigh Added comment: Comment on publications: PMID 29350269: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome. PMID 30289750: "Kcne5 knockout ( Kcne5-/0) mice have ventricular premature beats, increased susceptibility to induction of polymorphic ventricular tachycardia (60 vs. 24% in Kcne5+/0 mice), and 10% shorter ventricular refractory period. The findings represent the first reported native role for Kcne5 and the first demonstrated Kcne regulation of KV2.1 in mouse heart. Increased KV current is a manifestation of KCNE5 disruption that is most likely common to both mouse and human hearts, providing a plausible mechanistic basis for human KCNE5-linked."
Brugada syndrome and cardiac sodium channel disease v1.10 KCNE5 Sarah Leigh Publications for gene: KCNE5 were set to 29350269
Brugada syndrome and cardiac sodium channel disease v1.9 KCNE5 Sarah Leigh Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome
Brugada syndrome and cardiac sodium channel disease v1.8 KCNE5 Sarah Leigh Added comment: Comment on publications: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome.
Brugada syndrome and cardiac sodium channel disease v1.8 KCNE5 Sarah Leigh Publications for gene: KCNE5 were set to
Brugada syndrome and cardiac sodium channel disease SCN5A Ellen McDonagh commented on SCN5A