Spontaneous coronary artery dissection
Gene: TGFB3EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 32897753
4x individuals with missense, however only 3x with personal history of SCAD
Sources: LiteratureCreated: 27 Jun 2024, 11:10 p.m. | Last Modified: 7 Aug 2024, 11:22 p.m.
Panel Version: 0.40
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 5 MIM#615582
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Loeys-Dietz syndrome 5 MIM#615582
- OMIM
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- None
- Publications
- 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
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: TGFB3 were set to 30071989; 25835445
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: tgfb3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: tgfb3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: TGFB3 was added gene: TGFB3 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFB3 were set to 30071989; 25835445 Phenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5 MIM#615582 Review for gene: TGFB3 was set to GREEN gene: TGFB3 was marked as current diagnostic