Interstitial Lung Disease
Gene: ELN

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

1 review

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Autosomal dominant cutis laxa associated with premature emphysema.
Over 5 unrelated families reported with premature emphysema and congenital lung disease.
Animal models.
Created: 6 Nov 2021, 3:08 a.m. | Last Modified: 6 Nov 2021, 3:08 a.m.

Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
OMIM#185500 - supravalvular aortic stenosis OMIM#123700 - Autosomal dominant cutis laxa

Publications

Created: 6 Nov 2021, 3:08 a.m.
Last Modified: 6 Nov 2021, 3:08 a.m.
Panel version: 0.183

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cutis laxa, autosomal dominant, MIM# 123700

OMIM

130160

Clinvar variants

Variants in ELN

Penetrance

None

Publications

Panels with this gene