Thoracic aortic aneurysm or dissection
Gene: COL1A2After consulting with the Genomics England Clinical Team, it was decided that this gene should remain Green on this panel.Created: 13 Jan 2020, 10:40 a.m. | Last Modified: 13 Jan 2020, 10:40 a.m.
Panel Version: 1.110
MOI was corrected.Created: 30 Sep 2019, 10:49 a.m. | Last Modified: 30 Sep 2019, 10:49 a.m.
Panel Version: 1.96
Gene not currently tested on Manchester cardiac gene panel. 566 variants listed on HGMD (accessed 24/09/2019). Very little literature showing aortic involvement.Created: 24 Sep 2019, 1:55 p.m. | Last Modified: 24 Sep 2019, 1:56 p.m.
Panel Version: 1.93
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ehlers-Danlos syndrome, arthrochalasia type, 2 617821; Ehlers-Danlos syndrome, cardiac valvular type 225320; Osteogenesis imperfecta, types II, III, IV 166210 259420 166220
On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel.
Associated with EDS and OI, which overlap with TAADCreated: 8 May 2019, 1:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
617821 AD Ehlers-Danlos syndrome, arthrochalasia type - no cardiac involvement; 225320 AR Ehlers-Danlos syndrome, cardiac valvular type - aortic/mitral valve insufficiencyCreated: 25 Mar 2019, 4:30 p.m.
Schwarze et al 2004 Am J Hum Genet 74:917 PMID:15077201 identified truncating variants - splice variants affecting +/-1 position (compound heterozygous) and nonsense (homozygous) that lead to disease through NMD.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COL1A2 is on this panel for syndromic TAAD: patients with syndromic thoracic aortic aneurysm suffer from conditions including Ehlers-Danlos syndrome (EDS). Osteogenesis Imperfecta (OI) patients can also present with TAAD as a secondary feature (PMID:10523481).Created: 29 Jun 2017, 11:35 a.m.
Comment on mode of inheritance: AD on OMIMCreated: 19 Feb 2016, 2:48 p.m.
Comment when marking as ready: Definite disease-causing gene, with phenotype overlapping Thoracic Aortic Aneurysm DiseaseCreated: 19 Feb 2016, 2:40 p.m.
Borderline aortic root dilatations described in the valvular type of EDS.Created: 12 Feb 2016, 11:14 a.m.
Phenotypes
#225320- Ehlers-Danlos syndrome, cardiac valvular form; #130060- Ehlers-Danlos syndrome, type VIIB
Publications
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.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.
Comment on phenotypes: Sourced from OMIMCreated: 1 Feb 2016, 11:30 a.m.
Publications for gene: COL1A2 were set to
Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source South West GLH was added to COL1A2. Mode of inheritance for gene COL1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to COL1A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for COL1A2 were set to Ehlers-Danlos syndrome, cardiac valvular form; Ehlers-Danlos syndrome, type VIIB
COL1A2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list