Epileptic encephalopathy
Gene: UBE3A
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comments from the Imprinting GeCIP subdomain: 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.Created: 29 Jan 2016, 12:05 p.m.
Comment on publications: References in Publications in square brackets refer to genomic indels/rearrangements demonstrating gene dosage effect upon disease, rather than disease-causing genetic mutations per se (sourced from Imprinting GeCIP subdomain).Created: 29 Jan 2016, 11:59 a.m.
Comment on mode of inheritance: Imprinted (on the imprinted gene list from GeCIP subdomain and G2P database): http://www.imprinting-disorders.eu/?page_id=276Created: 29 Jan 2016, 11:57 a.m.
This gene has been classified as Green List (High Evidence).
Publications for UBE3A were set to Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117; 9887341; 8988171; 8988172; 21974935; [7795645; 2309780; 12545427; 18500341]
Mode of inheritance for UBE3A was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for UBE3A were set to Angelman syndrome
Publications for UBE3A were set to Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
The Gel status was updated for this whole panel
UBE3A was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene UBE3A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
UBE3A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
UBE3A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert