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  3. UBE3A
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Cerebral Palsy

Gene: UBE3A

Green List (high evidence)
UBE3A (ubiquitin protein ligase E3A)
EnsemblGeneIds (GRCh38): ENSG00000114062
EnsemblGeneIds (GRCh37): ENSG00000114062
OMIM: 601623, Gene2Phenotype
UBE3A is in 10 panels

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

3 additional individuals with mono-allelic P/LP variants reported in large-scale exome sequencing study (PMID: 38693247).
Created: 27 May 2024, 3:02 p.m. | Last Modified: 27 May 2024, 3:02 p.m.
Panel Version: 1.194

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Angelman syndrome, MIM #105830

Publications

Created: 27 May 2024, 3:02 p.m.
Last Modified: 27 May 2024, 3:02 p.m.
Panel version: 1.194

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Neurodevelopmental disorder with DD, ID, epilepsy, and ataxia. Moreno-De-Luca et al. (2021) reported 3 patients with CP with P/LP variants.
Sources: Literature
Created: 7 Oct 2021, 1:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Angelman syndrome , OMIM #105830

Publications

Created: 7 Oct 2021, 1:08 a.m.

Panel version: 1.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Angelman syndrome , OMIM #105830
OMIM
601623
Clinvar variants
Variants in UBE3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBE3A were set to PMID: 33528536

7 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ube3a has been classified as Green List (High Evidence).

7 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: ube3a has been classified as Green List (High Evidence).

7 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: UBE3A was added gene: UBE3A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: UBE3A were set to PMID: 33528536 Phenotypes for gene: UBE3A were set to Angelman syndrome , OMIM #105830 Review for gene: UBE3A was set to GREEN