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 Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: CYSTINOSIS, NEPHROPATHIC; CTNS

Haploinsufficiency phenotype comments:

Loss of function mutations in CTNS are associated with the autosomal recessive condition cystinosis. A 57 kb deletion that involves ~10 exons of CTNS is detected as one of the mutations in ~40% of Northern Europeans with nephropathic cystinosis. Heterozygous carriers are unaffected.

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