Ehlers Danlos syndromes

Gene: ELN

Green List (high evidence)

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

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ELN; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Red to Green as there is enough evidence in the literature to support the phenotype
Created: 10 May 2017, 5:09 p.m.
Comment on publications: added publications to support evidence that variants of ELN causes cutis laxa
Created: 10 May 2017, 5:09 p.m.
Added to panel as can present with clinical features overlapping EDS
Created: 10 May 2017, 5:04 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Causes cutis laxa, not EDS
Created: 8 Apr 2016, 3:10 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal dominant, OMIM:123700
OMIM
130160
Clinvar variants
Variants in ELN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ELN were changed from Cutis laxa, AD, 123700 to Cutis laxa, autosomal dominant, OMIM:123700

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ELN. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

10 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ELN were set to 9580666;9873040;16085695

10 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ELN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ELN was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELN was added to Ehlers-Danlos syndromespanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Red