Ehlers Danlos syndrome with a likely monogenic cause
Gene: LOX
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: LOX; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
Comment on publications: added publications evidence in more than three unrelated familiesCreated: 4 May 2017, 3:15 p.m.
Refer to clinical team for further discussion on wether we should include this gene on the EDS panel. There is clinical overlap between EDS and other Heritable Connective Tissue Disorders.Created: 4 May 2017, 3:11 p.m.
Comment on phenotypes from A.Tucci: LOX can present with joint hypermobilityCreated: 4 May 2017, 3:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Source NHS GMS was added to LOX. 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 LOX were set to 26838787; 27432961
Publications for LOX were set to 26838787;27432961
Mode of inheritance for LOX was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LOX was added to Ehlers-Danlos syndromespanel. Sources: Expert Review
Publications for LOX were set to 26838787
Phenotypes for LOX were set to Aortic aneurysm, familial thoracic 10, 617168
LOX was created by LouiseD
LOX was added to Ehlers-Danlos syndromespanel. Sources: Other