Thoracic aortic aneurysm or dissection
Gene: COL9A2

COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 15 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

614284 AR Stickler syndrome; 600204 AD multiple epiphyseal dysplasia; no mention of cardiac phenotype on OMIM and no relevant phenotype on HGMD
Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.90

Ellen McDonagh (Genomics England Curator)

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.

Created: 19 Feb 2016, 10:55 a.m.

Panel version: 0.22

Matina Prapa (Genomics England Curator)

Red List (low evidence)

Phenotypes
#614284- ?Stickler syndrome, type V

Publications

PMID: 21671392

Created: 12 Feb 2016, 11:54 a.m.

Panel version: 0.22

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

South West GLH
Expert list

OMIM

120260

Clinvar variants

Variants in COL9A2

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to COL9A2. Mode of inheritance for gene COL9A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Jul 2015, Gel status: 0

Added New Source