Thoracic aortic aneurysm or dissection
Gene: COL2A1
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#609508- Stickler sydrome, type I, nonsyndromic ocular; #108300- Stickler syndrome, type I
Publications
Source South West GLH was added to COL2A1. Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COL2A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list