ClinGen Dosage Sensitivity Curation Page

NEBL

  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PMID: 15253763 Yatsenko (2004): Two patients with DiGeorge Syndrome 2 are described with large deletions encompassing the NEBL gene and other genes.

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