CRELD1 cysteine rich with EGF like domains 1

Gene info



Previous symbol


External ID

HGNC: 14630
Entrez Gene: 78987
Ensembl: ENSG00000163703
UCSC: uc003buh.3
OMIM: 607170
UniProtKB: Q96HD1

Disease info

CHD Phenotype

  • Atrioventricular septal defect
  • Dextrocardia

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


Variant info


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 CRELD1.

Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
  2. Robinson, S. W., 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. DOI:10.1086/374319 PMID:12632326
  3. Zatyka, M., 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. DOI:10.1111/j.1399-0004.2005.00435.x PMID:15857420