Thoracic aortic aneurysm or dissection (GMS)
Gene: B4GALT7
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
Not significantly associated with aortopathy.Created: 2 Oct 2019, 3:53 p.m. | Last Modified: 2 Oct 2019, 3:53 p.m.
Panel Version: 0.32
Not significantly associated with aortopathy.Created: 2 Oct 2019, 3:53 p.m. | Last Modified: 2 Oct 2019, 3:53 p.m.
Panel Version: 0.32
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070
Publications
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.
Phenotypes
#130070- Ehlers-Danlos syndrome, progeroid type, 1
Publications
gene: B4GALT7 was added gene: B4GALT7 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal