Rare genetic inflammatory skin disorders
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
Catherine Snow (Genomics England)
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:ELN; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- 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
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: ELN was added gene: ELN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown