Cardiomyopathy_Paediatric
Gene: TGFB3
TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 1
- OMIM
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- None
- Panels with this gene
-
- Arrhythmogenic Cardiomyopathy
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Spontaneous coronary artery dissection
- Pneumothorax
History Filter Activity
28 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TGFB3 was added gene: TGFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1