Aortopathy_Connective Tissue Disorders
Gene: LOX
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
Gene: lox has been classified as Green List (High Evidence).
Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM#617168
Publications for gene: LOX were set to
Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: LOX was added gene: LOX was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LOX was set to Unknown