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  3. BAG5
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Paediatric or syndromic cardiomyopathy

Gene: BAG5

No list
BAG5 (BCL2 associated athanogene 5)
EnsemblGeneIds (GRCh38): ENSG00000166170
EnsemblGeneIds (GRCh37): ENSG00000166170
OMIM: 603885, Gene2Phenotype
BAG5 is in 1 panel

1 review

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

Green List (high evidence)

BAG5 curated as moderate-evidence DCM association by ClinGen as of 03/04/2026:
https://search.clinicalgenome.org/kb/genes/HGNC:941
with at least 5 homozygous or compound heterozygous early-onset DCM cases.

We have detected a homozygous nonsense variant in two affected sibs (with unaffected parents) in our lab via WGS testing.

Very sufficient evidence for a green rating for R135 panel
Sources: NHS GMS, ClinGen
Created: 22 Oct 2026, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated Cardiomyopathy

Publications

Created: 22 Oct 2026, 2:02 p.m.

Panel version: 8.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Dilated Cardiomyopathy
OMIM
603885
Clinvar variants
Variants in BAG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Oct 2026, 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: BAG5 was added gene: BAG5 was added to Paediatric or syndromic cardiomyopathy. Sources: NHS GMS,ClinGen Mode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BAG5 were set to PMID: 35044787; PMID: 37873655; PMID: 38796549 Phenotypes for gene: BAG5 were set to Dilated Cardiomyopathy Review for gene: BAG5 was set to GREEN