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Characterising the Brugada syndrome population of the 100,000 Genomes Project

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Lay summary

Brugada syndrome is a rare genetic disease which can cause abnormal and potentially life threatening heart rhythms. The disease is caused by pathogenic mutations in a number of genes which encode proteins forming part of the sodium channel, with the most commonly associated gene being SCN5A coding the cardiac sodium channel. Brugada is a haploinsufficiency syndrome in which one copy of the affected gene is inactivated or non-functional, leading to an insufficient amount of the gene product. This is equivalent to an autosomal dominant mode of inheritance. 

While Brugada syndrome was first discovered and detailed in 1992, there is still a great deal of uncertainty around the epidemiology of the disease and in particular the genotype – phenotype relationship. Brugada syndrome can be asymptomatic in many variant carriers, with the first symptom of the disease being an abnormal heart rhythm potentially resulting in death. To date there is no cure available for Brugada syndrome.

Brugada syndrome is a recruited-for condition in the NGRL. This study aims to characterise this group of participants genetically and phenotypically to better understand the genotype – phenotype relationship in Brugada syndrome and the overall disease penetrance within affected families.

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