ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

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