ClinGen Dosage Sensitivity Curation Page

NIPA1

  • 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:

Missense mutations in NIPA1 have been associated with Spastic paraplegia-6 (OMIM 600363). Martinez-Lage et al. (2012) PMID:22302102 summarizes these findings. Zhao et al. (2010) PMID:19091982 suggest gain of function as mechanism.

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