Disorder "Brugada Syndrome"
Found 5 records
Disorder information
Disorder name:
Brugada Syndrome
Disoder ID:
Synonyms:
Bangungut,Brugada type idiopathic ventricular fibrillation,Dream disease,Pokkuri death syndrome,SUNDS,sudden unexplained nocturnal death syndrome
Definition:
A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Modifier statisitcs
Record:
5
Gene:
2
Variant:
5
Reference:
3
Effect type:
Expressivity(4)
,Penetrance(1)
Modifier effect:
Altered gene activity(2)
,Altered severity(2)
,Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SCN5A | SCN5A:c.2572A-C(p.M858L) | Expressivity | Altered severity | From review article | Individuals with the mutation present with a more severe phenotype including spontaneous atrial tachyarrhythmia at young age.more | more |
| SCN5A:c.1673A>G(p.His558Arg) | Penetrance | Altered incidence | The SCN5A expression level was significantly higher and the methylation rate was significantly lower in sections with H558R (N=10) than those without (0.98±0.14 vs. 0.83±0.19, P=0.04; 0.7±0.2% vs. 1.6±0.1%, P=0.004, respectively). | The H558R may contribute to the protective effects in heterozygous mutations.more | more | |
| SCN5A:rs199473286 | Expressivity | Altered severity | From review article | Individuals with the mutation present with a more severe phenotype including spontaneous atrial tachyarrhythmia at young age.more | more | |
| KCNH2 | KCNH2:rs199473541 | Expressivity | Altered gene activity | Gene activity study | modify Brugada syndrome phenotypemore | more |
| KCNH2:rs41314354 | Expressivity | Altered gene activity | Gene activity study | modify Brugada syndrome phenotypemore | more |
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