Thoracic aortic aneurysm or dissection
Gene: COL11A1
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
Source South West GLH was added to COL11A1. Mode of inheritance for gene COL11A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COL11A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list