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Mendeliome

Gene: BAG3

Green List (high evidence)

BAG3 (BCL2 associated athanogene 3)
EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 9 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

I don't know

PMID: 37907725
7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.

PMID: 31853710
2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.

PMID: 30145633
1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.

PMID: 28754666
9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.
Created: 6 Mar 2025, 12:53 a.m. | Last Modified: 6 Mar 2025, 12:53 a.m.
Panel Version: 1.2352

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362; Charcot-Marie-Tooth disease type 2 MONDO: 0018993

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DCM: Over 20 unrelated probands reported, mouse model. DEFINITIVE by ClinGen.

Myopathy: more than 5 families reported.
Created: 30 Apr 2022, 7:53 a.m. | Last Modified: 30 Apr 2022, 7:53 a.m.
Panel Version: 0.13484

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1HH, MIM# 613881; Myopathy, myofibrillar, 6, MIM# 612954

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1HH, MIM# 613881
  • Myopathy, myofibrillar, 6, MIM# 612954
OMIM
603883
Clinvar variants
Variants in BAG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bag3 has been classified as Green List (High Evidence).

30 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BAG3 were changed from to Cardiomyopathy, dilated, 1HH, MIM# 613881; Myopathy, myofibrillar, 6, MIM# 612954

30 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BAG3 were set to

30 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BAG3 was added gene: BAG3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BAG3 was set to Unknown