OMIA:002688-9986 : Microcephaly, YIPF5-related in Oryctolagus cuniculus (rabbit)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611483 (gene) , 619278 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Species-specific description: Liu et al. (2023) "constructed a rabbit PMCPH [primary microcephaly] model harboring YIPF5 (p.W218R) mutation using SpRY-ABEmax mediated base substitution, which precisely recapitulated the typical symptoms of human PMCPH." This study involves genetically modified organisms (GMO).

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
YIPF5 Yip1 domain family, member 5 Oryctolagus cuniculus 3 NC_067376.1 (26030012..26008450) YIPF5 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 Year Published PubMed ID(s) Acknowledgements
1551 Microcephaly, primary YIPF5 missense Base-editing p.(W218R) 2023 37142085

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002688-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Liu, X., Yang, J., Li, Z., Liu, R., Wu, X., Zhang, Z., Lai, L., Li, Z., Song, Y. :
YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits. Neurobiol Dis :106135, 2023. Pubmed reference: 37142085. DOI: 10.1016/j.nbd.2023.106135.

Edit History


  • Created by Imke Tammen2 on 06 May 2023
  • Changed by Imke Tammen2 on 18 Dec 2023