Dilated cardiomyopathy - adult and teen

Gene: BAG3

Green List (high evidence)

BAG3 (BCL2 associated athanogene 3)
EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

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 GMS
Created: 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

History Filter Activity

3 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to BAG3. Rating Changed from Red List (low evidence) to Green List (high evidence)

3 Oct 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: bag3 has been classified as Red List (Low Evidence).

26 Sep 2019, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

19 Sep 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

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