BRUGADA SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: BRGDA2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 611777
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:0001645) Sudden cardiac death Rare [HPO:probinson] 17967977 IBIS 84 / 7739
2
(HPO:0011705) First degree atrioventricular block 17967977 IBIS 13 / 7739
3
(HPO:0001663) Ventricular fibrillation 17967977 IBIS 35 / 7739
4
(HPO:0012248) Prolonged PR interval 7/12 [HPO:probinson] 11839626 IBIS 6 / 7739
5
(HPO:0011712) Right bundle branch block 17967977 IBIS 34 / 7739
6
(HPO:0001279) Syncope 17967977 IBIS 94 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Weiss et al. (2002) reported a large multigenerational family with a progressive conduction disease consistent with Brugada syndrome in which they identified 12 affected individuals with an autosomal dominant inheritance pattern characterized by incomplete penetrance that appeared to ...
Molecular genetics OMIM In a large family with Brugada syndrome linked to 3p25-p22, previously reported by Weiss et al. (2002), London et al. (2007) performed fine mapping and narrowed the critical region to approximately 1,000 kb on chromosome 3p24. Candidate genes ...