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Cardiomyopathies - including childhood onset

Gene: TGFB3

Red List (low evidence)

TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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)

Red List (low evidence)

Arrhythmogenic right ventricular dysplasia 1 OMIM#107970; Loeys-Dietz syndrome 5 OMIM#615582
Created: 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 ARVC
Created: 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

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