ClinGen Dosage Sensitivity Curation Page
NDN
- Curation Status: Complete
- id: ISCA-34489
- Date last evaluated: 2012-04-26
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about NDN at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/4692
- OMIM: https://omim.org/entry/602117
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.47
- See related regions:
- 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2)
- 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1)
Select assembly:
(NC_000015.9)
(NC_000015.10)
- Haploinsufficiency score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Haploinsufficiency phenotype comments:
Kanber et al. (2009) report on 2 patients with PWS that have atypical 15q11 deletions including SNRPN, but that do not include MKRN3, MAGEL2 and NDN, suggesting that deletion of these 3 genes do not cause the PWS phenotype (19066619). Beneduzzi et al. (2011) analyzed 160 patients with isolated hypogonadotropic hypogonadism (IHH) for mutations in NDN. They did not find any pathogenic variants in this gene. Note: This gene has been studied in mice for a relationship to the obesity phenotype observed in PWS, but no human mutations have been identified.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype comment:
PMID:18925931 Cai et al. (2008) identified a de novo 120 kb duplication including MKRN3, MAGEL2, and NDN using MLPA probes in monozygotic twins with autism.