BRUGADA SYNDROME 7

General Information (adopted from Orphanet):

Synonyms, Signs: BRGDA7
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613120
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004749) Atrial flutter 20 / 7739
2
(HPO:0012251) ST segment elevation 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hu et al. (2009) studied an asymptomatic 64-year-old Caucasian man of German, Swedish, and Native American ancestry who presented with a resting electrocardiogram (ECG) showing slight ST segment elevation and negative T waves in V1, which was suggestive ...
Molecular genetics OMIM In a 64-year-old man with Brugada syndrome, who was negative for mutation in 9 'Brugada-susceptibility' genes, Hu et al. (2009) identified heterozygosity for a missense mutation in the SCN3B gene (608214.0001). The mutation was not found in the ...