Dilated and arrhythmogenic cardiomyopathy
Gene: BAG3
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Green as the group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
On CGGL Royal Brompton DCM panel. Several pathogenic and likely pathogenic variants (incl CNVs) detected on diagnostic testing with some segregation data. Good evidence in literature.
Sources: NHS GMSCreated: 19 Sep 2019, 8:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OMIM 613881: Cardiomyopathy, dilated, 1HH; 612954 Myopathy, myofibrillar, 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Green was added to BAG3. Rating Changed from Red List (low evidence) to Green List (high evidence)
Gene: bag3 has been classified as Red List (Low Evidence).
Phenotypes for gene: BAG3 were changed from OMIM 613881: Cardiomyopathy, dilated, 1HH; 612954 Myopathy, myofibrillar, 6 to Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954
gene: BAG3 was added gene: BAG3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to 30442290; 28737513; 28211974 Phenotypes for gene: BAG3 were set to OMIM 613881: Cardiomyopathy, dilated, 1HH; 612954 Myopathy, myofibrillar, 6 Review for gene: BAG3 was set to GREEN gene: BAG3 was marked as current diagnostic