CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
- Ventricular septal defect
- Atrial septal defect
Extra Cardiac Phenotype
Heterozygous and homozygous null mice have CHD
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
No variant passing our criteria was found for CITED2.
- Sperling, S., Grimm, C. H., Dunkel, I., Mebus, S., Sperling, H.-P., Ebner, A., … Hammer, S. (2005). Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects. Human Mutation, 26(6), 575–582. DOI:10.1002/humu.20262 PMID:16287139
- Liu, Y., Wang, F., Wu, Y., Tan, S., Wen, Q., Wang, J., … Pan, H. (2014). Variations of CITED2 Are Associated with Congenital Heart Disease (CHD) in Chinese Population. PLoS ONE, 9(5), e98157. DOI:10.1371/journal.pone.0098157 PMID:24848765
- Xu, M., Wu, X., Li, Y., Yang, X., Hu, J., Zheng, M., & Tian, J. (2014). CITED2 Mutation and methylation in children with congenital heart disease. Journal of Biomedical Science, 21(1), 7. DOI:10.1186/1423-0127-21-7 PMID:24456003