Aortopathy_Connective Tissue Disorders
Gene: LOX

LOX (lysyl oxidase)
EnsemblGeneIds (GRCh38): ENSG00000113083
EnsemblGeneIds (GRCh37): ENSG00000113083
OMIM: 153455, Gene2Phenotype
LOX is in 6 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Reviewed as having 'strong' gene-disease association by the HTAAD working group, based on ClinGen framework (PMID: 30071989).

Missense and nonsense variants described in six unrelated families with HTAAD and functional studies of three missense variants demonstrated a reduction in LOX activity (Guo et.al. (2016); PMID: 26838787).

Two further individuals with negative family history: one individual has pathogenic nonsense variant and second individual has VUS missense variant (Renner et al. (2019); PMID: 30675029).
Created: 25 Jun 2020, 3:01 a.m. | Last Modified: 25 Jun 2020, 3:01 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 10 MIM#617168

Publications

Created: 25 Jun 2020, 3:01 a.m.
Last Modified: 25 Jun 2020, 3:01 a.m.
Panel version: 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Aortic aneurysm, familial thoracic 10, MIM#617168

OMIM

153455

Clinvar variants

Variants in LOX

Penetrance

None

Publications

Panels with this gene