Rhabdomyolysis and Metabolic Myopathy
Gene: RBCK1EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 9 panels
2 reviews
Danielle Ariti (University of Melbourne)
14 individuals from 11 unrelated families; two mouse model
homozygous or compound heterozygous mutations in the RBCK1 gene (missense, deletion, frameshift) resulting in truncated protein.
Clinically, individuals present in infancy with skeletal muscular weakness, cardiomyopathy to chronic autoinflammation and immunodeficiency (recurrent infections in early infancy).Created: 10 Aug 2021, 12:36 a.m. | Last Modified: 10 Aug 2021, 12:36 a.m.
Panel Version: 0.8713
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895; muscular weakness; cardiomyopathy; recurrent bacterial/viral infections; autoinflammation; immunodeficiency; Poor antibody responses to polysaccharides; failure to thrive; fever; pneumonia
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Eight unrelated families reported, onset in childhood.Created: 14 Jun 2020, 11:50 p.m. | Last Modified: 14 Jun 2020, 11:50 p.m.
Panel Version: 0.171
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy, early-onset, with or without immunodeficiency, MIM#615895
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Polyglucosan body myopathy 1 with or without immunodeficiency 615895
- OMIM
- 610924
- Clinvar variants
- Variants in RBCK1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rbck1 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: RBCK1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RBCK1 was added gene: RBCK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895