Cardiomyopathies - including childhood onsetGene: TGFB3
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
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
Source NHS GMS was added to TGFB3.
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