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
Variant info
Clinvar
Selected variant
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
Download annotation file for ELN: BED file
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Selected References
- Wessels, M., & 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
- Li, D. (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
- Metcalfe, K., 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