Thoracic aortic aneurysm or dissection
Gene: TGFB2EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 12 panels
8 reviews
Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)
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
Rebecca Whittington (South West GLH)
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
James Eden (Manchester)
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
David Parry (University of Edinburgh)
Nick Camm (NHS)
Louise Daugherty (Genomics England Curator)
Comment on mode of inheritance: changed MOI based on expert reviewCreated: 4 May 2017, 2:43 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Matina Prapa (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#614816- Loeys-Dietz syndrome 4
Publications
- PMID: 22772368
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Loeys-Dietz syndrome 4, 614816
- Loeys-Dietz syndrome 4 (614816)
- OMIM
- 190220
- Clinvar variants
- Variants in TGFB2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Cerebral vascular malformations
- Pneumothorax - familial
- Intellectual disability
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to TGFB2.
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to TGFB2.
Added New Source, Set Phenotypes, Set publications, Status Update
Ellen McDonagh (Genomics England Curator)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)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TGFB2 were set to Loeys-Dietz syndrome 4, 614816
Set publications
Louise Daugherty (Genomics England Curator)Publications for TGFB2 were set to 22772368;22772371
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)TGFB2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)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