ClinGen Dosage Sensitivity Curation Page

NIPA2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PMID:22367439 Jiang et al. (2012) sequenced NIPA2 in a Chinese population with childhood absence epilepsy (CAE). They found 3 mutations (2 missense and 1 insertion [p.N334_E335 insD]) in 3 patients. All mutations were paternally inherited, but were not found in 700 normal controls.

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