ClinGen Dosage Sensitivity Curation Page
UBE3A
- Curation Status: Complete
- id: ISCA-28084
- Date last evaluated: 2012-08-23
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about UBE3A at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/7337
- OMIM: https://omim.org/entry/601623
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1144/?term=UBE3A
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
- See related regions:
- 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2)
- 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1)
Select assembly:
(NC_000015.9)
(NC_000015.10)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: ANGELMAN SYNDROME; AS
| 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.