Congenital myopathy

Gene: BAG3

Red List (low evidence)

BAG3 (BCL2 associated athanogene 3)
EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 12 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

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

Phenotypes
Myopathy, myofibrillar, 6, 612954

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Age of onset not in congenital range and therefore interpretation in an infant could be difficult. Red after expert opinion
Created: 7 Mar 2017, 2:31 p.m.
Comment on list classification: In view of concerns over age of onset, that include later / adult the overall feeling is that this gene could be difficult to interpret in a younger patient.
Created: 7 Mar 2017, 2:30 p.m.
Comment when marking as ready: Some cases overlap with the phenotype of weakness in early childhood therefore include to be inclusive.
Created: 22 Feb 2017, 11:33 a.m.
Comment on list classification: Evidence for causation is there but previous reviews queried whether this would be relevant to the inclusion criteria. In view of inclusivity to reflect the broad differential, this would be appropriate for inclusion in view of the presence of weakness and onset in some, at an early age.
Created: 22 Feb 2017, 11:33 a.m.
Comment when marking as ready: Although three families reported, age of onset after infancy and raised CK (6x and 15x) noted therefore not appropriate for inclusion / exclusion criteria
Created: 3 Feb 2017, 10:42 a.m.
Comment on list classification: Does not meet inclusion criteria in terms of age of onset and markedly raised CK measurement.
Created: 3 Feb 2017, 10:41 a.m.
A number of patients have been reported (3 in the above PMID reference), however the onset does not appear to be congenital. The earliest reports of symptoms are tip-toe walking as toddlers. Also note that two of the reported cases have CK measurements >5 fold above normal (6x and 15x); one of the exclusion critieria. Therefore I do not find this gene particularly appropriate for congenital myopathy panel.
Created: 26 Jan 2017, 1:55 p.m.

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

Phenotypes
Myopathy, myofibrillar, 6 612954

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 6, 612954
OMIM
603883
Clinvar variants
Variants in BAG3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

7 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

3 Feb 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for BAG3 were set to Myopathy, myofibrillar, 6, 612954

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for BAG3 were set to 19085932

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BAG3 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BAG3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen