Thoracic aortic aneurysm or dissection (GMS)
Gene: COL9A3
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
Associated with connective tissue disorders but insufficient aortic involvement described in the literature for inclusion in this panel.Created: 3 Oct 2019, 10:59 a.m. | Last Modified: 3 Oct 2019, 10:59 a.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
Publications
600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy; no cardiac involment on OMIM and no relevant phenotype on HGMDCreated: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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, 10:55 a.m.
single case report (see ref) linking hereditary multiple diaphyseal sclerosis to ascending aortic aneurysm formationCreated: 12 Feb 2016, 3:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#600969- Epiphyseal dysplasia, multiple, 3
Publications
gene: COL9A3 was added gene: COL9A3 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted