Ehlers Danlos syndrome with a likely monogenic cause
Gene: ELN
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: greenCreated: 3 Apr 2019, 3:41 p.m.
Comment on list classification: Changed from Red to Green as there is enough evidence in the literature to support the phenotypeCreated: 10 May 2017, 5:09 p.m.
Comment on publications: added publications to support evidence that variants of ELN causes cutis laxaCreated: 10 May 2017, 5:09 p.m.
Added to panel as can present with clinical features overlapping EDSCreated: 10 May 2017, 5:04 p.m.
Comment on list classification: Causes cutis laxa, not EDSCreated: 8 Apr 2016, 3:10 p.m.
Phenotypes for gene: ELN were changed from Cutis laxa, AD, 123700 to Cutis laxa, autosomal dominant, OMIM:123700
Source NHS GMS was added to ELN. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for ELN were set to 9580666;9873040;16085695
Mode of inheritance for ELN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ELN was created by ellenmcdonagh
ELN was added to Ehlers-Danlos syndromespanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Red