Ehlers Danlos syndromes

Gene: LOX

Green List (high evidence)

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)

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.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

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

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

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.

4 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).

4 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LOX were set to 26838787; 27432961

4 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LOX were set to 26838787;27432961

4 May 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

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

4 May 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

LOX was added to Ehlers-Danlos syndromespanel. Sources: Expert Review

28 Apr 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LOX were set to 26838787

28 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for LOX were set to Aortic aneurysm, familial thoracic 10, 617168

26 Apr 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

LOX was created by LouiseD

26 Apr 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

LOX was added to Ehlers-Danlos syndromespanel. Sources: Other