ClinGen Dosage Sensitivity Curation Page

NTAN1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

NTAN1 lies within the recurrent 16p13.11 microdeletion/ duplication region. NTAN1 is a candidate gene for the neurobehavioral phenotypes associated with these copy number variants (PMID 19786961; 26887912). However, there is no published evidence that haploinsufficiency or triplosensitivity of NTAN1 on its own is a direct causal mechanism of disease.

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