Dilated and arrhythmogenic cardiomyopathy
Gene: BAG3EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 9 panels
2 reviews
Ivone Leong (Genomics England Curator)
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, dilated, 1HH, 613881
- Myopathy, myofibrillar, 6, 612954
- OMIM
- 603883
- Clinvar variants
- Variants in BAG3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Distal myopathies
History Filter Activity
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)
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: bag3 has been classified as Red List (Low Evidence).
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
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