ClinGen Dosage Sensitivity Curation Page


Curation Status: Complete

Gene Information

Location Information

Evidence for Loss Phenotypes

Evidence for loss of function 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).

Evidence for Triplosenstive Phenotype

NOTE:The loss of function score should be used to evaluate deletions, and the triplosensitivity score should be used to evaluated duplications. CNVs encompassing more than one gene must be evaluated in their totality (e.g. overall size, gain vs. loss, presence of other genes, etc). The rating of a single gene within the CNV should not necessarily be the only criteria by which one defines a clinical interpretation. Individual interpretations must take into account the phenotype described for the patient as well as issues of penetrance and expressivity of the disorder. ACMG has published guidelines for the characterization of postnatal CNVs, and these recommendations should be utilized (Genet Med (2011)13: 680-685). Exceptions to these interpretive correlations will occur, and clinical judgment should always be exercised.