This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: COL11A1
COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- ClinGen
- Expert Review Red
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 120280
- Clinvar variants
- Variants in COL11A1
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Clefting
- Structural eye disease
- Stickler syndrome
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Retinal disorders
- Osteogenesis imperfecta
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Thoracic aortic aneurysm or dissection
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
History Filter Activity
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)COL11A1 was created by ellenmcdonagh
22 Jun 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COL11A1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red