Aortopathy_Connective Tissue Disorders

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)

>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: 1 Jul 2020, 5:53 a.m.

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

Phenotypes
Cutis laxa 123700; Supravalvar aortic stenosis 185500

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
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

1 Jul 2020, 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).

1 Jul 2020, 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).

1 Jul 2020, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: ELN was added gene: ELN was added to Aortopathy_Connective Tissue Disorders. Sources: Other Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELN were set to 27866049; 31560829; 19844261; 19844261 Phenotypes for gene: ELN were set to Cutis laxa 123700; Supravalvar aortic stenosis 185500 Review for gene: ELN was set to GREEN