ClinGen Dosage Sensitivity Curation Page

NNAT

  • Curation Status: Complete

Location Information

Select assembly: (NC_000020.10) (NC_000020.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

At this time, no loss of function mutations in Nnat have been identified in human disease. Neuronatin is a paternally expressed imprinted gene that is initially expressed in the rhombomeres and pituitary gland and later more widely in the central and peripheral nervous system. In an association study, Vrang et al. (2010) identified two SNPs located in the 3? region of Nnat (rs6090836 and rs6019102) that showed significant association with childhood obesity, class III adult obesity, and pooled severe forms of obesity (PMID: 19851307).

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