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Epileptic encephalopathy

Gene: UBE3A

Green List (high evidence)

UBE3A (ubiquitin protein ligase E3A)
EnsemblGeneIds (GRCh38): ENSG00000114062
EnsemblGeneIds (GRCh37): ENSG00000114062
OMIM: 601623, Gene2Phenotype
UBE3A is in 5 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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.
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).
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=276
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

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

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]

29 Jan 2016, Gel status: 4

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)

29 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for UBE3A were set to Angelman syndrome

29 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for UBE3A were set to Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE3A was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

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

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE3A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE3A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert