ClinGen Dosage Sensitivity Curation Page

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OSBPL5

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

No evidence was found to suggest that loss of function of OSBPL5 results in a specific phenotype. One study has shown that this gene is imprinted in the placenta of both mice and humans, but not other tissues (PMID:12504849), while another counters that it is not imprinted in human trophoblast stem cells (PMID:20644730). Neither study proposed a specific human phenotype associated with changes in imprinting within this gene.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No evidence was found to suggest that duplications of OSBPL5 result in a specific phenotype. One study has shown that this gene is imprinted in the placenta of both mice and humans, but not other tissues (PMID:12504849), while another counters that it is not imprinted in human trophoblast stem cells (PMID:20644730). Neither study proposed a specific human phenotype associated with changes in imprinting within this gene.