Genomic imprinting
Gene: UBE3Athe 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
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
This gene has been classified as Green List (High Evidence).
UBE3A was created by ellenmcdonagh
UBE3A was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain