ClinGen Dosage Sensitivity Curation Page
CTNS
- Curation Status: Complete
- id: ISCA-32498
- Date last evaluated: 2012-08-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about CTNS at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/1497
- OMIM: https://omim.org/entry/606272
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1400/?term=CTNS
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.034
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