Pneumothorax - familial
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
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ELN; Suggested initial gene rating: Amber; Evidence for inclusion: Cutis laxa; pneumothorax is an extremely rare feature.; Evidence for exclusion: Pneumothorax rare/almost unheard of, dermatological features more striking.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 6 Dec 2018, 2:37 p.m.
Stefan Marciniak (University of Cambridge)
Mutated in Cutis Laxa (AD), which can lead to emphysema and pneumothorax - tenuous linkCreated: 8 Sep 2016, 3:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cutis laxa
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Cutis laxa
- OMIM
- 130160
- Clinvar variants
- Variants in ELN
- Penetrance
- Complete
- Publications
- 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
6 Dec 2018, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ELN.
9 Feb 2017, Gel status: 1
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/02/17 - Panel revised according to expert review, literature searches and clinical review.
18 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Sep 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
8 Sep 2016, Gel status: 0
Created
Stefan Marciniak (University of Cambridge)ELN was created by [email protected]
8 Sep 2016, Gel status: 0
Added New Source
Stefan Marciniak (University of Cambridge)ELN was added to Familial Pneumothoraxpanel. Sources: Expert list