Thoracic aortic aneurysm or dissection (GMS)

Gene: COL9A3

Red List (low evidence)

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

Red List (low evidence)

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

• 24765306

Red List (low evidence)

600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy; no cardiac involment on OMIM and no relevant phenotype on HGMD

Created: 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.

Red List (low evidence)

single case report (see ref) linking hereditary multiple diaphyseal sclerosis to ascending aortic aneurysm formation

Created: 12 Feb 2016, 3:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#600969- Epiphyseal dysplasia, multiple, 3

Publications

• PMID: 24765306