ClinGen Dosage Sensitivity Curation Page

CTNS

  • 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