OMIA:003010-9615 : Polyglucosan body myopathy, RBCK1-related in Canis lupus familiaris (dog) |
Categories: Homeostasis / metabolism phene , Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610924 (gene) , 615895 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Cross-species summary: A type of glycogen storage disease
Species-specific name: glycogen storage disease myopathy
Molecular basis: Blake et al. (2025) used whole genome sequencing of affected Basset hounds to identify a likely causal splice site donor variant in RBCK1: CFA24:20,935,568 (RBCK1:XM_038571894.1:c.1044+1G>T; omia.variant:1833).
Clinical features: Blake et al. (2025) "report two young adult Basset Hound (BH) littermates presenting with congestive heart failure, pelvic limb weakness, gastro-intestinal upset, and sudden death."
Pathology: Blake et al. (2025): "histologically, both cases were characterized by severe myocardial degeneration and necrosis with abundant cardiomyocyte intrasarcoplasmic glycogen accumulation."
Breed:
Basset Hound (Dog) (VBO_0200126).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| RBCK1 | RANBP2-type and C3HC4-type zinc finger containing 1 | Canis lupus familiaris | 24 | NC_051828.1 (21134123..21116652) | RBCK1 | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1833 | Basset Hound (Dog) | Glycogen storage disease myopathy | RBCK1 | substitution | splicing | Naturally occurring variant | Not currently evaluated | U_Cfam_GSD_1.0 | 24 | NC_049245.1:g.20935568C>A | XM_038571894.1:c.1044+1G>T | 2025 | 40939526 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:003010-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Blake, J.M., Miller, A.D., Marr, J.L., Ekenstedt, K.J. : |
| Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. Mol Genet Metab 146:S1096-7192(25)00223-9:109232, 2025. Pubmed reference: 40939526. DOI: 10.1016/j.ymgme.2025.109232. |
Edit History
- Created by Imke Tammen2 on 15 Sep 2025
- Changed by Imke Tammen2 on 15 Sep 2025