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Fetal anomalies

Gene: ELN

Green List (high evidence)

ELN (elastin)
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 10 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Supravalvular aortic stenosis(SVAS) is a congenital heart defect.

>3 families with Cutis laxa or Supravalvar aortic stenosis.

PMID: 30071989
Assertion made by the Aortopathy working group. So far there is no evidence that patients with ELN mutations present with aortic dissection or progressive aortic enlargement. Functional evidence, however, supports a role for ELN in HTAAD. ELN mutations cause AD cutis laxa syndrome, a disease with low risk for thoracic aortic disease and primarily diagnosed based on non-vascular features
Sources: Other
Created: 29 Nov 2021, 2:51 a.m. | Last Modified: 29 Nov 2021, 2:51 a.m.
Panel Version: 0.771

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cutis laxa 123700; Supravalvar aortic stenosis 185500

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cutis laxa 123700
  • Supravalvar aortic stenosis 185500
OMIM
130160
Clinvar variants
Variants in ELN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eln has been classified as Green List (High Evidence).

13 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ELN were changed from ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS to Cutis laxa 123700; Supravalvar aortic stenosis 185500

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ELN were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELN was added gene: ELN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS