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
- Heterotaxy 5 (AD)
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.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for NODAL: BED file
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Selected References
- Mohapatra, B., Casey, B., Li, H., Ho-Dawson, T., Smith, L., Fernbach, S. D., Molinari, L., Niesh, S. R., Jefferies, J. L., Craigen, W. J., Towbin, J. A., Belmont, J. W., & 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. https://doi.org/10.1093/hmg/ddn411 DOI:10.1093/hmg/ddn411 PMID:19064609