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  2. Dilated Cardiomyopathy
  3. BAG5
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Dilated Cardiomyopathy

Gene: BAG5

Green List (high evidence)
BAG5 (BCL2 associated athanogene 5)
EnsemblGeneIds (GRCh38): ENSG00000166170
EnsemblGeneIds (GRCh37): ENSG00000166170
OMIM: 603885, Gene2Phenotype
BAG5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 individuals from four unrelated families reported. All had early-onset disease, with the diagnosis being made in the second decade of life in 4 patients (families 1, 3, and 4) and at age 34 in 1 (family 2). Refractory ventricular arrhythmias (tachycardia or fibrillation), severely reduced left ventricular ejection fractions, elevated left ventricular diastolic dimensions, and elevated brain natriuretic peptide (BNP) levels reported. All developed severe heart failure requiring placement of a left ventricular assist device for circulatory support, and at least 1 underwent cardiac transplantation.
Sources: Literature
Created: 13 Feb 2022, 2:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2F, MIM# 619747

Publications

Created: 13 Feb 2022, 2:06 a.m.

Panel version: 1.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 2F, MIM# 619747
OMIM
603885
Clinvar variants
Variants in BAG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bag5 has been classified as Green List (High Evidence).

13 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bag5 has been classified as Green List (High Evidence).

13 Feb 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BAG5 was added gene: BAG5 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BAG5 were set to 35044787 Phenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM# 619747 Review for gene: BAG5 was set to GREEN