Thoracic aortic aneurysm or dissection (GMS)

Gene: COL2A1

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)

Most commonly associated with the two phenotypes above in HGMD. Definite connective tissue disorders association but insufficient aortic involvement for inclusion in this panel.

Created: 3 Oct 2019, 10:48 a.m. | Last Modified: 3 Oct 2019, 10:48 a.m.

Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Stickler syndrome, type I 108300; Spondyloperipheral dysplasia 271700

Red List (low evidence)

A number of syndromic and non-syndromic skeletal dysplasia/CTD described on OMIM. Only one with any cardiac involvement is 108300 Stickler syndrome (mitral valve prolapse)

Created: 25 Mar 2019, 4:30 p.m.

Hoornaert et al 2010 Eur J Hum Genet 18:872 PMID:20179744 review genotype/phenotype correlations in 100 Stickler syndrome patients with mutations in COL2A1 and make no mention of any cardiac phenotype, so this is unlikely to be a significant feature of this syndrome.

Created: 25 Mar 2019, 4:27 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, 10:54 a.m.

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#609508- Stickler sydrome, type I, nonsyndromic ocular; #108300- Stickler syndrome, type I

Publications

• PMID: 12544472