Clinical utility gene card for: Angelman Syndrome

Abstract

1.5 Mutational spectrum 75% Maternal deletion 15q11–q13. 1–2% Paternal uniparental disomy (upd(15)pat). 3% Imprinting defect. 5–10% Variants in the UBE3A gene. 10–15% Unknown (It is important to exclude differential diagnoses in these cases as there is phenotypic overlap with several other genetic disorders). Data on this disease (gene variants/phenotype) can be found in the public database Decipher (https://decipher.sanger.ac.uk).

DOI: 10.1038/ejhg.2014.93

Cite this paper

@article{Buiting2015ClinicalUG, title={Clinical utility gene card for: Angelman Syndrome}, author={Karin Buiting and Jill Clayton-Smith and Daniel J. Driscoll and G Gillessen-kaesbach and Deniz Kanber and Eberhard Schwinger and Charles A. Williams and Bernhard Horsthemke}, journal={European Journal of Human Genetics}, year={2015}, volume={23}, pages={-} }