OMIA:002537-9541 : Encephalopathy, STXBP1-related in Macaca fascicularis |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612164 (trait) , 602926 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific name: STXBP1 encephalopathy
Species-specific symbol: STXBP1-E
Species-specific description: The affected animals described by Lu et al. (2022) are genetically-modified organisma (GMOs) created "through base editing of in vitro fertilized embryos".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| STXBP1 | syntaxin binding protein 1 | Macaca fascicularis | 15 | NC_052269.1 (98947119..99027746) | STXBP1 | Homologene, 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1438 | Encephalopathy, STXBP1-related | STXBP1 | missense | Base-editing | Macaca_fascicularis5.0 | 15 | g.101106196C>T | c.875G>A | p.(R292H) | XM_005582167.2; XP_005582224.1 | 2022 | 35283272 |
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.
| 2022 | Lu, Z., He, S., Jiang, J., Zhuang, L., Wang, Y., Yang, G., Jiang, X., Nie, Y., Fu, J., Zhang, X., Lu, Y., Bian, X., Chang, H.C., Xiong, Z., Huang, X., Liu, Z., Sun, Q. : |
| Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy. Mol Ther 30:2163-2175, 2022. Pubmed reference: 35283272 . DOI: 10.1016/j.ymthe.2022.03.001. | |
| Lu, Z., He, S., Jiang, J., Zhuang, L., Wang, Y., Yang, G., Jiang, X., Nie, Y., Fu, J., Zhang, X., Lu, Y., Bian, X., Chang, H.C., Xiong, Z., Huang, X., Liu, Z., Sun, Q. : | |
| Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy. Mol Ther 30:2869-2873, 2022. Pubmed reference: 35797994 . DOI: 10.1016/j.ymthe.2022.06.020. |
Edit History
- Created by Frank Nicholas on 16 Mar 2022
- Changed by Frank Nicholas on 16 Mar 2022