Congenital muscular dystrophy and congenital myopathy
Gene: BAG3EnsemblGeneIds (GRCh38): ENSG00000151929
EnsemblGeneIds (GRCh37): ENSG00000151929
OMIM: 603883, Gene2Phenotype
BAG3 is in 9 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, myofibrillar, 6, 612954
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Age of onset not in congenital range and therefore interpretation in an infant could be difficult. Red after expert opinionCreated: 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 criteriaCreated: 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
- PMID 19085932
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, myofibrillar, 6, OMIM:612954
- OMIM
- 603883
- Clinvar variants
- Variants in BAG3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: BAG3 was added gene: BAG3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to 19085932 Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6, OMIM:612954 Penetrance for gene: BAG3 were set to Complete