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| Paediatric or syndromic cardiomyopathy v8.14 | BAG5 |
Matthew Edwards 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 Added comment: 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 |
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