ClinGen Dosage Sensitivity Curation Page

NAALADL2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
15168106 Gene was disrupted by translocation in a patient with Cornelia de Lange syndrome. However mutation screening of NAALADL2 in a panel of CdLS patient DNA samples failed to identify patient-specific mutations.
22106001 A 2.2?Mb deletion at 3q26.3-3q26.32-encompassing the terminal end of NLGN1 and the entire NAALADL2 gene-detected by genomic microarray, and confirmed by FISH and real-time quantitative PCR. The same size deletion was subsequently found in her healthy, asymptomatic, adult mother.

Haploinsufficiency phenotype comments:

NAALADL2 is in a subtelomeric region of 3q. Reported losses are contiguous with larger deletions (either interstitial or terminal). There are no reports of isolated deletions or duplications of this gene.

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