OMIA 002537-9541 : Encephalopathy, STXBP1-related in Macaca fascicularis

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612164 (trait) , 602926 (gene)

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 c. 875G>A p. (R292H) 2022 35283272

Reference


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 :, 2022. Pubmed reference: 35283272. DOI: 10.1016/j.ymthe.2022.03.001.

Edit History


  • Created by Frank Nicholas on 16 Mar 2022
  • Changed by Frank Nicholas on 16 Mar 2022