Stroke
Gene: COL3A1EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 4 cervical artery dissection cases with a heterozygous COL3A1 variant, which is a major cause of ischaemic stroke.
Sources: LiteratureCreated: 10 May 2020, 10:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, vascular type MIM#130050
Publications
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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: col3a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: col3a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COL3A1 was added gene: COL3A1 was added to Stroke. Sources: Literature Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL3A1 were set to 30356112; 12786757; 31903434; 25355833 Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type MIM#130050 Review for gene: COL3A1 was set to GREEN