Thoracic aortic aneurysm or dissection

Gene: COL11A1

Red List (low evidence)

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 18 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

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 HGMD
Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

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.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

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

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

3 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list