ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
20034088 Abaied et al. (2010) found a frameshift mutation in UBE3A (3240_3255delinsAGATGTT) in a large family with 14 individuals affected with AS.
19213023 Camprub? et al. (2009) identified 11 pathogenic mutations (including 8 mutations that had not been previously reported) in UBE3A in patients with AS. One of the novel mutations was a de novo frameshift.
8988172 Matsuura et al. (1997) sequenced UBE3A in 11 AS patients. They found a de novo frameshift mutation (1344delAG) and a de novo nonsense mutation (R417X).

Haploinsufficiency phenotype comments:

Maternally inherited mutations cause Angelman syndrome.

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

Triplosensitivity phenotype comment:

Focal duplications of UBE3A have not been reported. 15q11-q13 maternally inherited interstitial duplications are associated with autism (608636). Please see linked region for details.