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| Imprinting disorders v0.3 | UBE3A | Anna Le Fevre reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8988171, 16470747; Phenotypes: Angelman syndrome OMIM#105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.0 | UBE3A |
Zornitza Stark gene: UBE3A was added gene: UBE3A was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: UBE3A were set to 12545427; 8988172; http://igc.otago.ac.nz/home.html; 18500341]; 8988171; 21974935; 2309780; PMID: 9887341; [7795645; 30794780 Phenotypes for gene: UBE3A were set to Affected tissue: brain; Phenotype resulting from under expression: Angelman Syndrome |
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