Genes in panel

Hereditary neuropathy

Gene: BAG3

Red List (low evidence)

BAG3 (BCL2 associated athanogene 3)
EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 11 panels

7 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

In Bristol C3s only (none with cardiac features). Doesn't currently fit PanelApp criteria for green for neuropathy. PMID:28754666 - appears to be strong segregation evidence for p.Pro209Ser in one family with neuropathy but no cardiac disease (weaker evidence in a second). PMID:22734908 - four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Can't see funcational evidence in relation to neuropathy
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: Included in dilated cardiomyopathy panel; not (primarily) a CMT gene
Created: 8 Jul 2016, 3:40 a.m.

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene will be kept as amber due to disagreement between reviewers and the complexity of the phenotype (and whether neuropathy is a primary feature caused by variants within this gene).
Created: 10 May 2016, 1:11 p.m.
Comment on list classification: Originally an amber gene, with conflicting reviews. Associated with cardiomyopathy, dilated, IHH and myopathy, myofibrillar 6 in OMIM.
Created: 4 May 2016, 8:32 a.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Complex phenotype, not pure CMT
PMID 30145633, 28224639, 22734098 also report assoc so prob should be green
Created: 9 Dec 2015, 8:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Complex phenotype, not pure CMT
Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Myopathy, myofibrillar, 6 612954
  • Cardiomyopathy, dilated, 1HH, 613881
OMIM
603883
Clinvar variants
Variants in BAG3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881 for gene: BAG3 Publications for gene BAG3 were changed from PMID: 25728519 - we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12); 22734908 - we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy; PMID: 26545904 - Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy. to 28754666; 22734908

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BAG3.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to BAG3.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BAG3 were set to PMID: 25728519 - we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12); 22734908 - we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy; PMID: 26545904 - Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy.

10 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BAG3 were set to PMID: 25728519 - we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12); 22734908 - we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy; PMID: 26545904 - Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy.

10 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BAG3 were set to PMID: 25728519

4 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BAG3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BAG3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BAG3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BAG3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BAG3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN