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  3. UBE3A
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Imprinting disorders

Gene: UBE3A

Green List (high evidence)
UBE3A (ubiquitin protein ligase E3A)
EnsemblGeneIds (GRCh38): ENSG00000114062
EnsemblGeneIds (GRCh37): ENSG00000114062
OMIM: 601623, Gene2Phenotype
UBE3A is in 10 panels

1 review

Anna Le Fevre (Victorian Clinical Genetics Services)

Green List (high evidence)

Maternal loss of function variants in UBE3A are a cause of Angelman Syndrome.
Created: 17 Sep 2021, 4:18 a.m. | Last Modified: 17 Sep 2021, 4:18 a.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Angelman syndrome OMIM#105830

Publications

Created: 17 Sep 2021, 4:18 a.m.
Last Modified: 17 Sep 2021, 4:18 a.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Affected tissue: brain
  • Phenotype resulting from under expression: Angelman Syndrome
OMIM
601623
Clinvar variants
Variants in UBE3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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