Thoracic aortic aneurysm or dissection
Gene: COL2A1
COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
3 reviews
Rebecca Whittington (South West GLH)
A number of syndromic and non-syndromic skeletal dysplasia/CTD described on OMIM. Only one with any cardiac involvement is 108300 Stickler syndrome (mitral valve prolapse)Created: 25 Mar 2019, 4:30 p.m.
Hoornaert et al 2010 Eur J Hum Genet 18:872 PMID:20179744 review genotype/phenotype correlations in 100 Stickler syndrome patients with mutations in COL2A1 and make no mention of any cardiac phenotype, so this is unlikely to be a significant feature of this syndrome.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#609508- Stickler sydrome, type I, nonsyndromic ocular; #108300- Stickler syndrome, type I
Publications
- PMID: 12544472
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Limb disorders
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
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 COL2A1. Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
3 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)COL2A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list