Angelman Rett like syndromes
Gene: UBE3AEnsemblGeneIds (GRCh38): ENSG00000114062
EnsemblGeneIds (GRCh37): ENSG00000114062
OMIM: 601623, Gene2Phenotype
UBE3A is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Approximately 70% of AS cases result from de novo maternal deletions involving chromosome 15q11.2-q13; approximately 2% result from paternal uniparental disomy of 15q11.2-q13; and 2 to 3% result from imprinting defects. A subset of the remaining 25% are caused by mutations in the gene encoding the ubiquitin-protein ligase E3A gene. Affected individuals have intellectual disability, movement or balance disorder, typical abnormal behaviours, and severe limitations in speech and language.Created: 25 Oct 2020, 10:47 a.m. | Last Modified: 25 Oct 2020, 10:47 a.m.
Panel Version: 0.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Angelman syndrome, MIM#105830
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Angelman syndrome, MIM#105830
- Tags
- OMIM
- 601623
- Clinvar variants
- Variants in UBE3A
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ube3a has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: UBE3A.
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: UBE3A were changed from Angelman syndrome, MIM#105830 to Angelman syndrome, MIM#105830
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: UBE3A were changed from to Angelman syndrome, MIM#105830
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: UBE3A was added gene: UBE3A was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UBE3A was set to Unknown