This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: COL3A1
COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 10 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 1:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- ClinGen
- Expert Review Green
- Other
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 120180
- Clinvar variants
- Variants in COL3A1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Fetal anomalies
- Familial cerebral small vessel disease
- Cerebral vascular malformations
- Malformations of cortical development
- Ehlers Danlos syndrome with a likely monogenic cause
- Rare genetic inflammatory skin disorders
- Pneumothorax - familial
History Filter Activity
23 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)COL3A1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Source: ClinGen COL3A1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Source: Expert Review Green
23 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)COL3A1 was created by ellenmcdonagh
23 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)COL3A1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: Other