ATRIAL SEPTAL DEFECT 4
General Information (adopted from Orphanet):
|Number of Symptoms||3|
Prevalence, inheritance and age of onset:
|Prevalence:||No data available.|
Autosomal dominant inheritance
|Age of onset:||
Disease classification (adopted from Orphanet):
|Parent Diseases:||No data available.|
ClinVar (via SNiPA)
|Gene symbol||Variation||Clinical significance||Reference|
|Clinical Description OMIM||
Kirk et al. (2007) identified 2 families with congenital heart defects, in which affected individuals displayed a complex spectrum of cardiac developmental abnormalities, including defects in septation, chamber growth, and valvulogenesis, and heterozygous mutation in the TBX20 gene. ...
|Molecular genetics OMIM||
In 2 families with congenital heart defects, Kirk et al. (2007) identified heterozygous mutation in the TBX20 gene. Affected members of the first family carried an ile152-to-met (I152M) mutation (I152M; 606061.0001); affected members of the second family carried ...