Cardiomyopathies - including childhood onsetGene: BAG3
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
OMIM#613881: Cardiomyopathy, dilated, 1HH; OMIM#612954: Myopathy, myofibrillar, 6.
Created: 25 Mar 2019, 4:30 p.m.
OMIM: listed with DCM and HGMD 40 variants listed with DCM only 2 VUS. Many truncating variants.In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531. Description of 3 paediatric cases with myopathy and LV dilation: Knezevic Heart Fail Rev (2015) 20:423434.
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 BAG3.
gene: BAG3 was added gene: BAG3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH