Arrhythmogenic right ventricular cardiomyopathy
Gene: TGFB3EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels
5 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Very limited evidence, based on single family. Need more evidence for inclusion hereCreated: 18 Sep 2019, 11:03 p.m. | Last Modified: 18 Sep 2019, 11:03 p.m.
Panel Version: 1.36
Rebecca Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 1 (107970); Loeys-Dietz syndrome 5 (615582)Created: 25 Mar 2019, 4:30 p.m.
On HGMDPro assoc mainly with Loeys-Dietz. ARVD1 OMIM: 107970. Beffagna Cardiovascular Research 65 (2005) 366 373: large ARVC family where index is 11 year old. Variant tracked with disease in a number of family members. Very rare cause of ARVCCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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.
Bill Newman (Manchester Centre for Genomic Medicine)
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- Expert Review Red
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 1
- OMIM
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Clefting
- Arrhythmogenic right ventricular cardiomyopathy
- Pneumothorax - familial
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to TGFB3. Mode of inheritance for gene TGFB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to TGFB3.
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TGFB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TGFB3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TGFB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TGFB3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)TGFB3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list