This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: TGFB2
TGFB2 (transforming growth factor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 12 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 Green
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 190220
- Clinvar variants
- Variants in TGFB2
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Clefting
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Cerebral vascular malformations
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
History Filter Activity
22 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TGFB2 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)TGFB2 was created by ellenmcdonagh