Ehlers Danlos syndrome with a likely monogenic cause
Gene: LOX

LOX (lysyl oxidase)
EnsemblGeneIds (GRCh38): ENSG00000113083
EnsemblGeneIds (GRCh37): ENSG00000113083
OMIM: 153455, Gene2Phenotype
LOX is in 5 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

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: LOX; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:28 p.m.

Panel version: 0.401

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications evidence in more than three unrelated families
Created: 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 hypermobility
Created: 4 May 2017, 3:08 p.m.

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

Created: 4 May 2017, 3:11 p.m.

Panel version: 0.268

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green
Expert Review
Other

Phenotypes

Aortic aneurysm, familial thoracic 10, OMIM:617168

OMIM

153455

Clinvar variants

Variants in LOX

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: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

25 Jul 2017, Gel status: 4