BRUGADA SYNDROME 6

General Information (adopted from Orphanet):

Synonyms, Signs: BRGDA6
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613119
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012251) ST segment elevation 7 / 7739
2
(HPO:0001663) Ventricular fibrillation 35 / 7739
3
(HPO:0001695) Cardiac arrest 87 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Delpon et al. (2008) studied a Danish pedigree in which the previously asymptomatic proband had cardiac arrest at age 36 years and was resuscitated. Electrocardiogram (ECG) showed a coved-type ST segment elevation (type 1) in leads V1 and ...
Molecular genetics OMIM In the proband of a Danish pedigree with Brugada syndrome, who was negative for mutation in the SCN5A gene (600163), Delpon et al. (2008) identified heterozygosity for a missense mutation in the KCNE3 gene (604433.0002). The mutation was ...