Thoracic aortic aneurysm or dissectionGene: B4GALT7
130070 spondylodysplastic Ehler's Danlos syndrome. Only 9 variants on HGMD, mostly missense. This is a progeriod Ehlers Danlos syndrome that does not have any cardiac involvement but does have other features of connective tissue syndromes.
Created: 25 Mar 2019, 4:30 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.
No link to aneurysm formation.
Created: 11 Feb 2016, 1:58 p.m.
#130070- Ehlers-Danlos syndrome, progeroid type, 1
Source South West GLH was added to B4GALT7. Mode of inheritance for gene B4GALT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
B4GALT7 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list