Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 10-03-2010
Symbol CSX
Location 5q35.1
Name non syndromic congenital heart disease
Other name(s) atrial septal defect with atrioventricular conduction defects
Corresponding gene NKX2-5
related resource Congenital Heart Disease at GeneDis
Main clinical features
  • associated with either isolated or combined congenital heart disease (CHD), primarily secundum atrial septal defect-II (ASD-II), ventricular septal defect (VSD) or tetralogy of Fallot (TOF)
    • Genetic determination autosomal dominant
    Related entries . including tetralogy of Fallot (OMIM 187500) or secundum type atrial septal defect associated or not with situs inversus
    Function/system disorder cardiovascular
    Type malformation
    Gene product
    Name NK2 transcription factor related, locus 5
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown disruption of DNA binding or of protein stability
    missense   abnormal protein/gain of function outside the homeodomain, and not associated with AV block
    Remark(s) germline mutations in NKX2.5 are rare in patients with sporadic CHD