Congenital myopathy
Gene: DNAJB6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myofibrillar Myopathy, Dominant
Comment when marking as ready: Not a congenital presentation. Onset from mid-childhood to adulthood. More appropriate for a muscular dystrophy-type panel.Created: 3 Feb 2017, 11:53 a.m.
Not a congenital presentation. Onset from mid-childhood to adulthood. More appropriate for a muscular dystrophy-type panel.Created: 30 Jan 2017, 3:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Muscular dystrophy, limb-girdle, type 1E 603511
Phenotypes for gene: DNAJB6 were changed from Myofibrillar Myopathy, Dominant; Muscular dystrophy, limb-girdle, type 1E 603511 to Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511
Phenotypes for gene: DNAJB6 were changed from Myofibrillar Myopathy, Dominant to Myofibrillar Myopathy, Dominant; Muscular dystrophy, limb-girdle, type 1E 603511
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 Red List (Low Evidence).
DNAJB6 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services