NODAL nodal growth differentiation factor

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 7865
Entrez Gene: 4838
Ensembl: ENSG00000156574
UCSC: uc001jrc.3
OMIM: 601265
UniProtKB: Q96S42

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Partial anomalous pulmonary venous return
  • Atrioventricular septal defect
  • Pulmonary atresia
  • Coarctation of the aorta
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Double-inlet left ventricle
  • Functional single ventricle
  • Total anomalous pulmonary venous return

Extra Cardiac Phenotype

Abdominal situs inversus, asplenia

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

Heterozygous and homozygous null mice have CHD

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for NODAL: BED file

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Selected References

  1. Mohapatra, B., Casey, B., Li, H., Ho-Dawson, T., Smith, L., Fernbach, S. D., … Ware, S. M. (2008). Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Human Molecular Genetics, 18(5), 861–871. DOI:10.1093/hmg/ddn411