Paediatric or syndromic cardiomyopathy
Gene: TGFB3
TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 1 OMIM#107970; Loeys-Dietz syndrome 5 OMIM#615582Created: 25 Mar 2019, 4:30 p.m.
Assoc with Loeys Dietz and rare ARVC. In ARVC database only two pathogenic variants and one paper associated. 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- South West GLH
- London South GLH
- Expert Review Red
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 1
- OMIM
- 190230
- Clinvar variants
- Variants in TGFB3
- Penetrance
- None
- Panels with this gene
-
- Pneumothorax - familial
- Paediatric or syndromic cardiomyopathy
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Clefting
- Fetal anomalies
- DDG2P
- Arthrogryposis
- Arrhythmogenic right ventricular cardiomyopathy
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
2 Dec 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TGFB3.
4 Sep 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TGFB3 was added gene: TGFB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,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 Arrhythmogenic right ventricular dysplasia 1