Pneumothorax - familial

Gene: ELN

Red List (low evidence)

ELN (elastin)
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 given
Created: 6 Dec 2018, 2:37 p.m.

Stefan Marciniak (University of Cambridge)

Red List (low evidence)

Mutated in Cutis Laxa (AD), which can lead to emphysema and pneumothorax - tenuous link
Created: 8 Sep 2016, 3:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cutis laxa

Publications

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