Thoracic aortic aneurysm and 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

10 reviews

James Eden (Manchester)

Green List (high evidence)

Gene is not currently tested on Manchester TAAD panel, although literature suggests it should be included in future TAAD panels.
Created: 25 Sep 2019, 9:05 a.m. | Last Modified: 25 Sep 2019, 9:05 a.m.
Panel Version: 0.30

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

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

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton FTAAD panel. Well characterised, and strong association with FTAAD in LDS type 5
Created: 18 Sep 2019, 2:57 p.m. | Last Modified: 18 Sep 2019, 2:57 p.m.
Panel Version: 0.30

Phenotypes
OMIM: 615582 Loeys-Dietz syndrome 5

Publications

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Created: 12 Sep 2019, 1:57 p.m. | Last Modified: 12 Sep 2019, 1:57 p.m.
Panel Version: 0.29

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

Green List (high evidence)

Associated with a LDS phenotype (LDS5, OMIM #615582); several entries on HGMDPro.
Created: 29 Aug 2019, 1:59 p.m. | Last Modified: 29 Aug 2019, 1:59 p.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LOEYS-DIETZ SYNDROME

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
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Loeys-Dietz syndrome 5, 615582
  • Arrhythmogenic right ventricular dysplasia 1, 107970
OMIM
190230
Clinvar variants
Variants in TGFB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TGFB3 were set to

12 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tgfb3 has been classified as Green List (High Evidence).

18 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TGFB3 was added gene: TGFB3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,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 Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970