Thoracic aortic aneurysm or dissection (GMS)
Gene: ADAMTS2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Not significantly associated with aortopathy.Created: 2 Oct 2019, 3:28 p.m. | Last Modified: 2 Oct 2019, 3:28 p.m.
Panel Version: 0.32
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, dermatosparaxis typen 225410
Publications
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
gene: ADAMTS2 was added gene: ADAMTS2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal