Ventricular fibrillation, paroxysmal familial, 1

General Information (adopted from Orphanet):

Synonyms, Signs: VF1
Number of Symptoms 0
OMIM Id: 603829

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Idiopathic ventricular fibrillation, not Brugada type
 -Rare cardiac disease
 -Rare genetic disease


VF1 is a sub-type idiopathic ventricular fibrillation, not Brugada type (Phenodis:2422). For symptom annotation please refer to idiopathic ventricular fibrillation, not Brugada type.

Symptom Information: Sort by abundance 

Associated genes:


ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DSP rs730880092 likely pathogenic RCV000157216.1
RYR2 rs190140598 pathogenic RCV000202619.1
SCN5A rs137854604 pathogenic RCV000058743.2
SCN5A rs199473106 pathogenic RCV000058402.2

Additional Information:

Clinical Description OMIM Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, ...
Molecular genetics OMIM Akai et al. (2000) described a novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome (600163.0014).

- Associations Pending Confirmation {2:Bezzina et al. (2010)} performed a genomewide association ...