Congenital myopathy
Gene: RBCK1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895
Publications
Comment when marking as ready: Not considered consistent with the phenotype for the panelCreated: 3 Feb 2017, 2:14 p.m.
Comment on list classification: In view of onset of symptoms age 4 - 16yrs including leg weakness or difficulty running, not considered the expected phenotypeCreated: 3 Feb 2017, 2:13 p.m.
8 unrelated families described in above PMID. Progressive weakness is a feature but onset in earliest cases is 4 years. Therefore unlikely to be of clinical use in a congenital myopathy panel.Created: 31 Jan 2017, 12:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Publications
Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895 to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
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 RBCK1 were set to 23798481
Mode of inheritance for RBCK1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
RBCK1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen