This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: COL5A1
COL5A1 (collagen type V alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 13 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.
Source: ClinGen Gene Validity Classification Summary. Determined as LIMITED by calculated classification (dated: 07/29/2016) and NO REPORTED EVIDENCE by the Aortopathy working group (dated 07/29/2016). "Though experimental data are available supporting a role for this gene in aortic disease, no probands with familial thoracic aortic aneurysm and dissection have been reported to date." Available here: https://search.clinicalgenome.org/kb/gene-validity/8283.Created: 23 Jun 2017, 8:42 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- ClinGen
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 120215
- Clinvar variants
- Variants in COL5A1
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric disorders - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Osteogenesis imperfecta
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Limb disorders
- Inherited bleeding disorders
- Fetal anomalies
- Skeletal dysplasia
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Rare genetic inflammatory skin disorders
- Pneumothorax - familial
History Filter Activity
23 Jun 2017, Gel status: 1
Changed Gene Name
Ellen McDonagh (Genomics England Curator)COL3A1 was changed to COL5A1
23 Jun 2017, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 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: Expert Review Red
22 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. Sources: ClinGen,Expert Review Green
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)COL3A1 was created by ellenmcdonagh