CUL3 cullin 3

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 2553
Entrez Gene: 8452
Ensembl: ENSG00000036257
UCSC: uc002vny.4
OMIM: 603136
UniProtKB: Q13618

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Pulmonary atresia
  • Pulmonic stenosis
  • Hypertrophic right ventricle

Extra Cardiac Phenotype

Developmental delay, intellectual disability, speech delay

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1347360

Variant info

Clinvar

CUL3

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. Di Francesco, D., Swenerton, A., Li, W. L., Dunham, C., Hendson, G., & Boerkoel, C. F. (2023). Are <scp>CUL3</scp> variants an underreported cause of congenital heart disease? American Journal of Medical Genetics Part A, 191(12), 2903–2907. Portico. https://doi.org/10.1002/ajmg.a.63387 DOI:10.1002/ajmg.a.63387 PMID:37665043