Thoracic aortic aneurysm or dissection

Gene: TGFB3

Green List (high evidence)

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

7 reviews

Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

Green List (high evidence)

Associated with a LDS phenotype; several entries on HGMDPro.
Created: 8 May 2019, 2:27 p.m.

Rebecca Whittington (South West GLH)

Green List (high evidence)

615582 Loeys-Dietz syndrom; well characterised gene
Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Nick Camm (NHS)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Note that the link to the Sherlock gene panel from Caroline's review is now at: http://sgm.med.usherbrooke.ca/index.php/en/services-en/cardiogenetics/taad
Created: 3 Jul 2017, 8:32 a.m.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On http://sherbrookegenomicmedicine.ca/index.php/en/services-en/cardiogenetics-en/taad-en
Created: 19 Feb 2016, 3:05 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.
Created: 19 Feb 2016, 11 a.m.

Matina Prapa (Genomics England Curator)

Green List (high evidence)

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections (PMID: 25835445)
Created: 14 Feb 2016, 3:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
107970- Arrhythmogenic right ventricular dysplasia 1; 615582- Loeys-Dietz syndrome 5

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 5, 615582
  • Arrhythmogenic right ventricular dysplasia 1, 107970
OMIM
190230
Clinvar variants
Variants in TGFB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TGFB3.

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to TGFB3. Rating Changed from Green List (high evidence) to Green List (high evidence)

29 Jun 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for TGFB3 were set to Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970

4 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TGFB3 were set to 25835445

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Feb 2016, Gel status: 0

Approved Gene

Caroline Wright (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Oct 2015, Gel status: 0

Added New Source

Nick Camm (NHS)

TGFB3 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Literature