Thoracic aortic aneurysm or dissection
Gene: TGFB2
Well characterised aortopathy gene; present on Wessex aortopathy panel.Created: 8 May 2019, 12:40 p.m.
Variants in this GENE are reported as part of current diagnostic practice
614816 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. 43 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, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 4 (614816)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: changed MOI based on expert reviewCreated: 4 May 2017, 2:43 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 = 12.Created: 19 Feb 2016, 10:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#614816- Loeys-Dietz syndrome 4
Publications
Source South West GLH was added to TGFB2.
Source London South GLH was added to TGFB2.
Source North West GLH was added to TGFB2. Added phenotypes Loeys-Dietz syndrome 4 (614816) for gene: TGFB2 Publications for gene TGFB2 were changed from 22772368; 22772371 to 29392890 Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for TGFB2 were set to Loeys-Dietz syndrome 4, 614816
Publications for TGFB2 were set to 22772368;22772371
Mode of inheritance for TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TGFB2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGFB2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Model of inheritance for gene TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGFB2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Model of inheritance for gene TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGFB2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
Model of inheritance for gene TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGFB2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
TGFB2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list