ClinGen Dosage Sensitivity Curation Page

SKI

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Large deletions of the 1p36 region containing multiple genes have been described as 1p36 microdeletion syndrome (PMID: 12376748 ;PMID: 20635359 ; etc. . See Gene Reviews: http://www.ncbi.nlm.nih.gov/books/NBK1191/. However, it is not known if a focal deletion of the SKI gene would result in any or some of the features of 1p36 deletion syndrome.

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