Thoracic aortic aneurysm or dissection
Gene: CHST14
601776 Ehlers-Danlos syndrome, musculocontractural type 1 - AR EDS with some cardiac involvement (valve anomolies/ASD)Created: 25 Mar 2019, 4:30 p.m.
Janecke et al 2016 Am J Med Genet A 170A:103 PMID:26373698 describe novel and recurrent missense and truncating variants in AR musculocontractural EDS. EDS phenotype with heart valve abnormalities in >50% of individuals and CHD occasionally present.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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, 10:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#601776 - Ehlers-Danlos syndrome, musculocontractural type 1
Publications
Source South West GLH was added to CHST14. Mode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal
CHST14 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list