Aortopathy_Connective Tissue Disorders
Gene: TGFB3

TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Uncertain for isolated aneurysm, but causes broader connective tissue disorder phenotype. 43 patients from 11 reported with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlapped clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity
Created: 25 Jun 2020, 6:17 a.m. | Last Modified: 25 Jun 2020, 6:17 a.m.

Panel Version: 0.29

Created: 25 Jun 2020, 6:17 a.m.
Last Modified: 25 Jun 2020, 6:17 a.m.
Panel version: 0.29

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

"Uncertain" by ClinGen. 43 patients from 11 families with syndromic presentations of aortic aneurysms reported in PMID 25835445 but this seemed insufficient for the ClinGen working group.
Created: 25 Jun 2020, 2:33 a.m. | Last Modified: 25 Jun 2020, 6:15 a.m.

Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jun 2020, 2:33 a.m.
Last Modified: 25 Jun 2020, 6:15 a.m.
Panel version: 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Loeys-Dietz syndrome 5, MI# 615582

OMIM

190230

Clinvar variants

Variants in TGFB3

Penetrance

None

Publications

Panels with this gene