Familial pulmonary fibrosis
Gene: ELN
ELN (elastin)
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 12 panels
2 reviews
Philip Molyneaux (Imperial College)
Alice Gardham (Genomics England)
Comment when marking as ready: Associated with emphysema rather than fibrosis -incorrect phenotypeCreated: 9 Feb 2017, 10:38 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 130160
- Clinvar variants
- Variants in ELN
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Elastin-related phenotypes
- DDG2P
- Familial pulmonary fibrosis
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Cerebral vascular malformations
- Pneumothorax - familial
- Intellectual disability
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
9 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ELN was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ELN was created by ellenmcdonagh