Congenital myopathy
Gene: LDB3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myofibrillar Myopathy, Dominant; Myopathy, myofibrillar, 4, 609452
Publications
Comment when marking as ready: Adult phenotypeCreated: 3 Feb 2017, 10:52 a.m.
Comment on list classification: Adult presentationCreated: 3 Feb 2017, 10:52 a.m.
Age of onset in reported cases 44 - 73 years therefore not considered appropriate for congenital myopathy panelCreated: 26 Jan 2017, 2:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, myofibrillar, 4 609452
Publications
Phenotypes for gene: LDB3 were changed from Myofibrillar Myopathy, Dominant; Myopathy, myofibrillar, 4, 609452 to Myopathy, myofibrillar, 4, OMIM:609452
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).
Publications for LDB3 were set to 15668942
This gene has been classified as Red List (Low Evidence).
LDB3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
LDB3 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services