Congenital muscular dystrophy and 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
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- 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
-
- Autoinflammatory disorders
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Congenital myopathy
- COVID-19 research
- Undiagnosed metabolic disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Glycogen storage disease
- DDG2P
- Arthrogryposis
- Acute rhabdomyolysis
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: RBCK1 was added gene: RBCK1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23798481 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Penetrance for gene: RBCK1 were set to Complete