Congenital myopathy
Gene: RBCK1EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 12 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895
Publications
Helen Brittain (Genomics England Curator)
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
- PMID 23798481
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
- OMIM
- 610924
- Clinvar variants
- Variants in RBCK1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- COVID-19 research
- Undiagnosed metabolic disorders
- Autoinflammatory disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Congenital myopathy
- Arthrogryposis
- Glycogen storage disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
panel promoted to version 1
Helen Brittain (Genomics England Curator)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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for RBCK1 were set to 23798481
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for RBCK1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()RBCK1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen