ClinGen Dosage Sensitivity Curation Page

ADNP

  • Curation Status: Complete

Location Information

Select assembly: (NC_000020.10) (NC_000020.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
24531329 9 patients reported with de novo LOF variants in ADNP identified by WES or molecular inversion probes specific for ADNP
25533962 4 patients with de novo LOF variants in ADNP

Haploinsufficiency phenotype comments:

21 patients with de novo LOF variants reported with a developmental brain disorder (ID/DD, ASD, epilepsy, ADHD) in the Geisinger DBD database: https://geisingeradmi.org/care-innovation/studies/dbd-genes/genes/ADNP.html. See GeneReviews for additional information.

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