Thoracic aortic aneurysm or dissection

Gene: COL9A2

Red List (low evidence)

COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 17 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

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.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

#614284- ?Stickler syndrome, type V


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

Ellen McDonagh (Genomics England Curator)

COL9A2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list