Thoracic aortic aneurysm and dissection

Gene: COL11A2

Red List (low evidence)

COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 16 panels

5 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

James Eden (Manchester)

Red List (low evidence)

Associated with connective tissue disorders but insufficient aortic involvement described in the literature for inclusion in this panel.
Created: 3 Oct 2019, 10:44 a.m. | Last Modified: 3 Oct 2019, 10:44 a.m.
Panel Version: 0.32

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 13 601868; Deafness, autosomal recessive 53 609706; Fibrochondrogenesis 2 614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant 184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive 215150

Rebecca Whittington (South West GLH)

Red List (low evidence)

601868/609706 AD/AR Deafness; 614524 AD/AR Fibrochondrogenesis 2; 184840/215150 AD/AR Otospondylomegaepiphyseal dysplasia; no cardiac involvement on OMIM and no relevant phenotypes 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.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions (see ref above). No known link to TAAD.
Created: 14 Feb 2016, 11:20 a.m.

Phenotypes
#601868- Deafness, autosomal dominant 13; #609706- Deafness, autosomal recessive 53; #614524- Fibrochondrogenesis 2; # 215150- Otospondylomegaepiphyseal dysplasia; #184840- Stickler syndrome, type III; #277610- Weissenbacher-Zweymuller syndrome

Publications

History Filter Activity

9 Sep 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COL11A2 were set to

18 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: COL11A2 was added gene: COL11A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal