CTNND1 catenin delta 1

Gene info

Synonyms

None

Previous symbol

CTNND

External ID

HGNC: 2515
Entrez Gene: 1500
Ensembl: ENSG00000198561
UCSC: uc021qjk.2
OMIM: 601045
UniProtKB: O60716

Disease info

Disease

None

CHD Phenotype

  • Ventricular septal defect
  • Atrial septal defect
  • Tetralogy of fallot
  • Coarctation of the aorta
  • Pulmonic stenosis
  • Patent ductus arteriosus

Extra Cardiac Phenotype

Cleft palate, hypodontia, limb dysmorphologies, neurodevelopmental disorders

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

105100

Variant info

Clinvar

CTNND1

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Alharatani, R., Ververi, A., Beleza-Meireles, A., Ji, W., Mis, E., Patterson, Q. T., Griffin, J. N., Bhujel, N., Chang, C. A., Dixit, A., Konstantino, M., Healy, C., Hannan, S., Neo, N., Cash, A., Li, D., Bhoj, E., Zackai, E. H., Cleaver, R., et al. (2020). Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. Human Molecular Genetics, 29(11), 1900–1921. https://doi.org/10.1093/hmg/ddaa050 DOI:10.1093/hmg/ddaa050 PMID:32196547