Epileptic encephalopathy
Gene: UBE3AEnsemblGeneIds (GRCh38): ENSG00000114062
EnsemblGeneIds (GRCh37): ENSG00000114062
OMIM: 601623, Gene2Phenotype
UBE3A is in 5 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
- Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
- Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
- Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
- Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Angelman syndrome
- OMIM
- 601623
- Clinvar variants
- Variants in UBE3A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for UBE3A were set to Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117; 9887341; 8988171; 8988172; 21974935; [7795645; 2309780; 12545427; 18500341]
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for UBE3A was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for UBE3A were set to Angelman syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for UBE3A were set to Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)UBE3A was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UBE3A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)UBE3A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)UBE3A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert