CTNNB1 catenin beta 1

Gene info

Synonyms

beta-catenin, armadillo

Previous symbol

CTNNB

External ID

HGNC: 2514
Entrez Gene: 1499
Ensembl: ENSG00000168036
UCSC: uc010hia.2
OMIM: 116806
UniProtKB: P35222

Disease info

Disease

None

CHD Phenotype

  • Absent pulmonary valve with intact ventricular septum
  • Atrioventricular septal defect
  • Tetralogy of fallot
  • Mitral valve prolapse

Extra Cardiac Phenotype

Psychomotor delay, intellectual disability, behavioral disturbances, movement disorders, visual defects and subtle facial and somatic features

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous null embryos show anterior-posterior axis formation anomalies, but develop to E7

MGI ID

88276

Variant info

Clinvar

CTNNB1

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

No variant passing our criteria was found for CTNNB1.

Selected References

  1. Sinibaldi, L., Garone, G., Mandarino, A., Iarossi, G., Chioma, L., Dentici, M. L., Merla, G., Agolini, E., Micalizzi, A., Mancini, C., Niceta, M., Macchiaiolo, M., Diodato, D., Onesimo, R., Blandino, R., Delogu, A. B., De Rosa, G., Trevisan, V., Iademarco, M., … Calcagni, G. (2023). Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. Clinical Genetics, 104(5), 528–541. Portico. https://doi.org/10.1111/cge.14404 DOI:10.1111/cge.14404 PMID:37455656