ClinGen Dosage Sensitivity Curation Page
NAALADL2
- Curation Status: Complete
- id: ISCA-36722
- Date last evaluated: 2016-01-07
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about NAALADL2 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/254827
- OMIM: https://omim.org/entry/608806
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
Select assembly:
(NC_000003.11)
(NC_000003.12)
- Haploinsufficiency score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
| 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