Congenital myopathy
Gene: BAG3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, myofibrillar, 6, 612954
Publications
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
Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6, 612954 to Myopathy, myofibrillar, 6, OMIM:612954
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for BAG3 were set to Myopathy, myofibrillar, 6, 612954
Publications for BAG3 were set to 19085932
This gene has been classified as Red List (Low Evidence).
BAG3 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
BAG3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen