Thoracic aortic aneurysm or dissection (GMS)
Gene: TGFBR2
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
On CGGL Royal Brompton FTAAD panel. Pathogenic variants reported. Well characterised gene.Created: 18 Sep 2019, 2:59 p.m. | Last Modified: 18 Sep 2019, 2:59 p.m.
Panel Version: 0.30
Phenotypes
OMIM: 610168 Loeys-Dietz syndrome type 2
Variants in this GENE are reported as part of current diagnostic practice
Well characterised aortopathy gene (Loeys-Dietz syndrome type 2 OMIM #610168); present on Wessex aortopathy and TAAD panels.Created: 29 Aug 2019, 2:25 p.m. | Last Modified: 29 Aug 2019, 2:25 p.m.
Panel Version: 0.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome
Variants in this GENE are reported as part of current diagnostic practice
610168 Loeys-Dietz syndrome; well characterised geneCreated: 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
Gene currently tested on Manchester cardiac gene panel. 148 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with TAAD (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys Dietz syndrome, type 2 (610168)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: In eligibility criteriaCreated: 19 Feb 2016, 2:08 p.m.
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.
On the Inherited Cardiac Condition Genes panel 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, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 11.Created: 19 Feb 2016, 10:51 a.m.
Publications
Publications for gene: TGFBR2 were set to
gene: TGFBR2 was added gene: TGFBR2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys Dietz syndrome, type 1B, 610168; Loeys Dietz syndrome, type 2 (610168); Loeys Dietz syndrome, type 2B, 610380