Pneumothorax
Gene: ELN

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Pneumothorax has occasionally been reported in cutis laxa cases, but never as presenting feature. A single case was reported with the presentation of bilateral pneumothorax and mentioned a genetic diagnosis of ADCL, which implies an ELN pathogenic variant.
Sources: Other
Created: 30 Oct 2022, 11:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cutis laxa, autosomal dominant 1 MONDO:0007411

Publications

Mode of pathogenicity
Other

Created: 30 Oct 2022, 11:52 p.m.

Panel version: 0.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Other

Phenotypes

cutis laxa, autosomal dominant 1 MONDO:0007411

OMIM

130160

Clinvar variants

Variants in ELN

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

30 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eln has been classified as Red List (Low Evidence).

30 Oct 2022, Gel status: 1

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