Glycogen storage disease
Gene: RBCK1EnsemblGeneIds (GRCh38): ENSG00000125826
EnsemblGeneIds (GRCh37): ENSG00000125826
OMIM: 610924, Gene2Phenotype
RBCK1 is in 12 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:13 a.m. | Last Modified: 1 Feb 2023, 10:13 a.m.
Panel Version: 1.10
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in at least 6 unrelated cases.Created: 2 Mar 2021, 1:39 p.m. | Last Modified: 2 Mar 2021, 1:39 p.m.
Panel Version: 1.5
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 2 Mar 2021, 1:34 p.m. | Last Modified: 2 Mar 2021, 1:34 p.m.
Panel Version: 1.5
Zornitza Stark (Australian Genomics)
Biallelic variants cause polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy, which is characterised as a glycogen storage disorder. At least 9 families reported.
Sources: Expert listCreated: 19 Jul 2020, 11:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895
- polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
- OMIM
- 610924
- Clinvar variants
- Variants in RBCK1
- Penetrance
- None
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: RBCK1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to RBCK1. Source NHS GMS was added to RBCK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 to Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895; polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: RBCK1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: rbck1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: RBCK1 was added gene: RBCK1 was added to Glycogen storage disease. Sources: Expert list Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23798481; 23104095 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Review for gene: RBCK1 was set to GREEN gene: RBCK1 was marked as current diagnostic