Spontaneous coronary artery dissection
Gene: LOX

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Aortic disease association is established, association with SCA plausible.
Created: 13 Aug 2024, 2:01 a.m. | Last Modified: 13 Aug 2024, 2:01 a.m.

Panel Version: 0.51

Phenotypes
Aortic aneurysm, familial thoracic 10 MIM#617168

Created: 13 Aug 2024, 2:01 a.m.
Last Modified: 13 Aug 2024, 2:01 a.m.
Panel version: 0.51

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 32897753
1x with circumflex coronary artery, possibly the same individual reported in PMID: 33125268
Met298Arg is absent in gnomad

PMID: 36103205
1x however, the missense was curated as benign (97 hets in gnomad v4)

Red/Amber rating - amber so as to not miss a diagnosis

Sources: Literature
Created: 27 Jun 2024, 11:52 p.m. | Last Modified: 7 Aug 2024, 5:19 a.m.

Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 10 MIM#617168

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Jun 2024, 11:52 p.m.
Last Modified: 7 Aug 2024, 5:19 a.m.
Panel version: 0.34

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Literature

Phenotypes

Aortic aneurysm, familial thoracic 10 MIM#617168

OMIM

153455

Clinvar variants

Variants in LOX

Penetrance

None

Publications

Panels with this gene