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Hereditary neuropathy
Gene: BAG3

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

7 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.

Panel Version: 1.352

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.

Created: 29 Apr 2019, 12:53 p.m.

Panel version: 1.352

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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

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.

Created: 8 Jul 2016, 3:40 a.m.

Panel version: 0.203

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.

Created: 4 May 2016, 8:32 a.m.

Panel version: 0.22

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

Created: 9 Dec 2015, 8:49 a.m.

Panel version: 0

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

Created: 8 Dec 2015, 3:05 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS
South West GLH
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

7 Dec 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to BAG3. Rating Changed from Red List (low evidence) to Green List (high evidence)

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