Spontaneous coronary artery dissection
Gene: COL3A1EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 17 panels
2 reviews
Stephanie Hesselson (Victor Chang Research Institute)
Several SCAD cohorts with whole genome sequencing data have reported individuals with variants in COL3A1. In addition vEDS cohorts have reported individuals who also have had a SCAD. This review lists only those cases with phenotype and genotype information.Created: 5 Dec 2024, 3:29 a.m. | Last Modified: 5 Dec 2024, 3:29 a.m.
Panel Version: 0.53
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CORONARY ARTERY DISSECTION, SPONTANEOUS MIM#122455
Publications
- PMID: 39130004
Ain Roesley (Victorian Clinical Genetics Services)
Classified as Definitive by Clingen for heritable thoracic aortic aneurysm and dissection; Ehlers-Danlos syndrome, vascular type.
Several individuals with SCAD have also been reported with variants in COL3A1
PMID: 32897753
PMID: 36103205
PMID: 35234813
Sources: LiteratureCreated: 27 Jun 2024, 11:18 p.m. | Last Modified: 6 Aug 2024, 10:54 p.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, vascular type MIM#130050
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ehlers-Danlos syndrome, vascular type MIM#130050
- OMIM
- 120180
- Clinvar variants
- Variants in COL3A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Additional findings_Adult
- Cobblestone Malformations
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Vasculitis
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Pneumothorax
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Aortopathy_Connective Tissue Disorders
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Spontaneous coronary artery dissection
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COL3A1 were set to 30071989
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: col3a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: col3a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: COL3A1 was added gene: COL3A1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL3A1 were set to 30071989 Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type MIM#130050 Review for gene: COL3A1 was set to GREEN gene: COL3A1 was marked as current diagnostic