This Panel is marked as Internal
Sudden cardiac death - previous panel
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 was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- Expert Review Red
- London South GLH
- Expert Review Red
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 1
- OMIM
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- None
- Panels with this gene
-
- Arthrogryposis
- Arrhythmogenic right ventricular cardiomyopathy
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Clefting
- Thoracic aortic aneurysm or dissection (GMS)
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- DDG2P
History Filter Activity
9 Sep 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TGFB3 was added gene: TGFB3 was added to Sudden cardiac death. Sources: Expert Review Red,London South GLH Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1