ClinGen Dosage Sensitivity Curation Page
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OSBPL5
- Curation Status: Complete
- id: ISCA-24218
- Date last evaluated: 2012-09-06
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about OSBPL5 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/114879
- OMIM: https://omim.org/entry/606733
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.001
- 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.