NKX2-5 NK2 homeobox 5

Gene info

Synonyms

CSX1, NKX2.5, NKX4-1

Previous symbol

CSX, NKX2E

External ID

HGNC: 2488
Entrez Gene: 1482
Ensembl: ENSG00000183072
UCSC: uc003mcm.3
OMIM: 600584
UniProtKB: P52952

Disease info

CHD Phenotype

  • Atrial septal defect
  • Atrioventricular septal defect
  • Coarctation of the aorta
  • Double outlet right ventricle
  • Hypoplastic left heart syndrome
  • Interrupted aortic arch
  • Transposition of the great arteries
  • Tetralogy of fallot
  • Ventricular septal defect
  • Ebstein anomaly

Extra Cardiac Phenotype

None

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

Heterozygous and homozygous null mice have CHD, mouse homozygous for a single point mutation has 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 NKX2-5: BED file

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Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191