Genomic imprinting
Gene: UBE3AEnsemblGeneIds (GRCh38): ENSG00000114062
EnsemblGeneIds (GRCh37): ENSG00000114062
OMIM: 601623, Gene2Phenotype
UBE3A is in 5 panels
1 review
Ellen McDonagh (Genomics England Curator)
the regulatory region of UBE3A is >100kb and includes elements subject to parent-of-origin specific regulation. Noncoding indels and rearrangements of the region are well-established causes of disease, associated in some but not all cases with alterations of DNA methylation marks. Altered regulation of other transcripts within this same regulatory region are associated with both AS and Prader-Willi syndrome.http://www.imprinting-disorders.eu/?page_id=276. This is (a) gene in imprinted regions, in which point mutations / indels are associated with disease (e.g. CDKN1C); (b) gene for which alteration of effective copy number is associated with disease (though mutations in the transcript are currently not identified)Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
From the Intellectual disability gene panel
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
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- Literature
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
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- Phenotype resulting from under expression: Angelman Syndrome
- Affected tissue: brain
- OMIM
- 601623
- Clinvar variants
- Variants in UBE3A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)Source Literature was added to UBE3A. Publications for gene UBE3A were updated from PMID: 9887341; 8988171; 8988172; 21974935; [7795645; 2309780; 12545427; 18500341] to 21974935; 18500341]; 2309780; PMID: 9887341; 30794780; 12545427; [7795645; 8988171; http://igc.otago.ac.nz/home.html; 8988172
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)UBE3A was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)UBE3A was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain