Table 1.

Molecular Genetic Testing Used in Brugada Syndrome

Gene 1Phenotype Designation% of Brugada Syndrome Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 2 Detectable by Method
Sequence analysis 3Gene-targeted deletion/duplication analysis 4
SCN5A Brugada syndrome 130% 599%~1% 6
ABCC9 <1%100%None reported 7
AKAP9
ANK2
CACNA1C Brugada syndrome 3
CACNB2 Brugada syndrome 4
CACNA2D1
CASQ2
DSG
DSP
FGF12
GPD1L Brugada syndrome 2
HCN4 Brugada syndrome 8
HEY2
KCNAB2
KCNB2
KCND2
KCND3 Brugada syndrome 9
KCNE2
KCNE3 Brugada syndrome 6
KCNE5
KCNH2
KCNJ8
KCNJ16
LRRC10
PKP2
PLN
RANGRF
RyR2
SCN1B Brugada syndrome 5
SCN2B
SCN3B Brugada syndrome 7
SCN4A
SCN10A
SCNN1A
SEMA3A
SLMAP
TBX5
TKT
TRPM4
TTN
XIRP1
XIRP2
Unknown~65% 8
1.
2.

See Molecular Genetics for information on variants detected in these genes.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

5.

Kapplinger et al [2010], Wilde et al [2022], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

7.
8.

From: Brugada Syndrome

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