ELN elastin

Gene info

Synonyms

WBS, WS, SVAS

Previous symbol

None

External ID

HGNC: 3327
Entrez Gene: 2006
Ensembl: ENSG00000049540
UCSC: uc003tzn.5
OMIM: 130160
UniProtKB: P15502

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Aortic stenosis

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Heterozygous and homozygous null mice have CHD

MGI ID

95317

Variant info

Clinvar

ELN

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

Download annotation file for ELN: BED file

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Selected References

  1. Wessels, & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. https://doi.org/10.1111/j.1399-0004.2010.01435.x DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
  2. Li. (1997). Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Human Molecular Genetics, 6(7), 1021–1028. https://doi.org/10.1093/hmg/6.7.1021 DOI:10.1093/hmg/6.7.1021 PMID:9215670
  3. Metcalfe, Rucka, A. K., Smoot, L., Hofstadler, G., Tuzler, G., McKeown, P., Siu, V., Rauch, A., Dean, J., Dennis, N., Ellis, I., Reardon, W., Cytrynbaum, C., Osborne, L., Yates, J. R., Read, A. P., Donnai, D., & Tassabehji, M. (2000). Elastin: mutational spectrum in supravalvular aortic stenosis. European Journal of Human Genetics, 8(12), 955–963. https://doi.org/10.1038/sj.ejhg.5200564 DOI:10.1038/sj.ejhg.5200564 PMID:11175284