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Hereditary Neuropathy - complex

Gene: BAG3

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Neuropathy is a feature of the condition - not the primary feature

PMID: 19085932
3 unrelated individuals from unrelated families
All individuals presented with childhood limb and axial muscle weakness.
Created: 23 May 2023, 3:51 a.m. | Last Modified: 23 May 2023, 3:51 a.m.
Panel Version: 0.149

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, myofibrillar, 6 (MIM#612954; MONDO:0013061)

Publications

Created: 23 May 2023, 3:51 a.m.
Last Modified: 23 May 2023, 3:51 a.m.
Panel version: 0.149

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy, myofibrillar, 6 (MIM#612954
  • MONDO:0013061)
OMIM
603883
Clinvar variants
Variants in BAG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bag3 has been classified as Amber List (Moderate Evidence).

30 May 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN to Myopathy, myofibrillar, 6 (MIM#612954; MONDO:0013061)

30 May 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BAG3 were set to

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bag3 has been classified as Amber List (Moderate Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BAG3 was added gene: BAG3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN