This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: TGFB3
TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 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
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- Complete
- Panels with this gene
-
- Pneumothorax - familial
- Paediatric or syndromic cardiomyopathy
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Clefting
- Fetal anomalies
- DDG2P
- Arthrogryposis
- Arrhythmogenic right ventricular cardiomyopathy
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TGFB3 was created by ellenmcdonagh
22 Jun 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TGFB3 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red