CRELD1 cysteine rich with EGF like domains 1
- Atrioventricular septal defect
Extra Cardiac Phenotype
MGI: no cardiovascular defect recorded
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 CRELD1.
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- Robinson, Morris, C. D., Goldmuntz, E., Reller, M. D., Jones, M. A., Steiner, R. D., & Maslen, C. L. (2003). Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects. The American Journal of Human Genetics, 72(4), 1047–1052. https://doi.org/10.1086/374319 DOI:10.1086/374319 PMID:12632326
- Zatyka, Priestley, M., Ladusans, E. J., Fryer, A. E., Mason, J., Latif, F., & Maher, E. R. (2005). Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). Clinical Genetics, 67(6), 526–528. https://doi.org/10.1111/j.1399-0004.2005.00435.x DOI:10.1111/j.1399-0004.2005.00435.x PMID:15857420