OMIA 002211-10036 : Cardiomyopathy, hypertrophic, SGCD-related in Mesocricetus auratus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | Mesocricetus auratus | NW_024429191.1 (27404137..26803015) | SGCD | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
652 | Cardiomyopathy, hypertrophic | SGCD | deletion, gross (>20) | Naturally occurring variant | a large deletion in the delta-SG gene | 1997 | 9097966 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2013 | Rotundo, I.L., Lancioni, A., Savarese, M., D'Orsi, L., Iacomino, M., Nigro, G., Piluso, G., Auricchio, A., Nigro, V. : | |
Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy. Hum Gene Ther 24:424-30, 2013. Pubmed reference: 23427808. DOI: 10.1089/hum.2012.121. | ||
1997 | Dinardo, P., Fiaccavento, R., Natali, A., Minieri, M., Sampaolesi, M., Fusco, A., Janmot, C., Cuda, G., Carbone, A., Rogliani, P., Peruzzi, G. : | |
Embryonic gene expression in nonoverloaded ventricles of hereditary hypertrophic cardiomyopathic hamsters Laboratory Investigation 77:489-502, 1997. Pubmed reference: 9389792. | ||
Nigro, V., Okazaki, Y., Belsito, A., Piluso, G., Matsuda, Y., Politano, L., Nigro, G., Ventura, C., Abbondanza, C., Molinari, A.M., Acampora, D., Nishimura, M., Hayashizaki, Y., Puca, G.A. : | ||
Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 6:601-7, 1997. Pubmed reference: 9097966. | ||
Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyooka, T., Hanaoka, F. : | ||
Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster - an animal model of disrupted dystrophin-associated glycoprotein complex Proceedings of the National Academy of Sciences of the United States of America 94:13873-13878, 1997. Pubmed reference: 9391120. |
Edit History
- Created by Frank Nicholas on 23 Sep 2019
- Changed by Frank Nicholas on 23 Sep 2019