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Elastin-related phenotypes
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
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #123700 & #185500) and the OMIM records were last accessed on 17 December 2025.Created: 17 Dec 2025, 11:47 p.m. | Last Modified: 17 Dec 2025, 11:47 p.m.
Panel Version: 1.2
ELN has been added to the panel for R140 Elastin-related phenotypes with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 11:59 a.m. | Last Modified: 30 Jun 2023, 11:59 a.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Cutis laxa, autosomal dominant, OMIM:123700
- Supravalvar aortic stenosis, OMIM:185500
- cutis laxa, autosomal dominant 1, MONDO:0007411
- supravalvular aortic stenosis, MONDO:0008504
- OMIM
- 130160
- Clinvar variants
- Variants in ELN
- Penetrance
- None
- 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
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Cerebral vascular malformations
- Pneumothorax - familial
History Filter Activity
17 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ELN were changed from to Cutis laxa, autosomal dominant, OMIM:123700; Supravalvar aortic stenosis, OMIM:185500; cutis laxa, autosomal dominant 1, MONDO:0007411; supravalvular aortic stenosis, MONDO:0008504
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ELN was added gene: ELN was added to Elastin-related phenotypes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown