Thoracic aortic aneurysm or dissection
Gene: ADAMTS2
225410 dermatospraxis type Ehlers-Danlos syndrome. OMIM phenotype is skin fragility and bruising without any cardiovascular phenotype. No aortopathy associations on OMIMCreated: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.Created: 19 Feb 2016, 10:52 a.m.
No known link to thoracic aortic aneurysm formation.
Created: 11 Feb 2016, 12:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#225410- Ehlers-Danlos syndrome, type VIIC
Publications
Phenotypes for gene: ADAMTS2 were changed from to 225410 Ehlers-Danlos syndrome, type VIIC
Publications for gene: ADAMTS2 were set to
Mode of inheritance for gene: ADAMTS2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source South West GLH was added to ADAMTS2. Mode of inheritance for gene ADAMTS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
ADAMTS2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list