Thoracic aortic aneurysm or dissection (GMS)
Gene: COL11A1
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
Definitively associated with Stickler syndrome and Marshall syndrome but neither has significant aortic involvement according to the literature.Created: 3 Oct 2019, 10:41 a.m. | Last Modified: 3 Oct 2019, 10:41 a.m.
Panel Version: 0.32
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Deafness, autosomal dominant 37 618533; Fibrochondrogenesis 1 228520; Marshall syndrome 154780; Stickler syndrome, type II 604841
154780 AD Marshall syndrome; 604841 AD Stickler syndrome, type II; 228520 AR Fibrochondrogenesis 1. None of these have aortic involvement (Patent foramen ovale in Fibrochondrogeneis 1); no relevant phenotypes listed on HGMDCreated: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
BOTH monoallelic and 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, 10:54 a.m.
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.
Stickler syndrome associated with mitral valve prolapse (can be considered as continuum of TAAD in the context of HLHS) although results are conflicting (MVP has been reported in nearly 50% of individuals with Stickler syndrome in one series and no individuals in another- see ref above).Created: 12 Feb 2016, 10:26 a.m.
Phenotypes
#228520- Fibrochondrogenesis 1; #154780- Marshall syndrome; #604841- Stickler syndrome, type II; #603932- Lumbar disc herniation, susceptibility to
Publications
gene: COL11A1 was added gene: COL11A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal