PanelApp
  1. Genes and Genomic Entities
  2. UBE3A

UBE3A

ubiquitin protein ligase E3A
OMIM: 601623, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green UBE3A in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13

1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Angelman syndrome, MIM#105830
Tags
  • SV/CNV

Green UBE3A in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green UBE3A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

2 reviews MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Angelman syndrome , OMIM #105830

Green UBE3A in Mendeliome


Version 1.3512

2 reviews MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Angelman syndrome, MIM#105830
Tags
  • SV/CNV

Green UBE3A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

2 reviews MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Angelman syndrome MIM#105830
Tags
  • SV/CNV

Green UBE3A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Angelman syndrome, MIM#105830

    Green UBE3A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green UBE3A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Angelman syndrome MONDO:0007113

    Green UBE3A in Imprinting disorders


    Version 1.8

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Affected tissue: brain
    • Phenotype resulting from under expression: Angelman Syndrome

    Red UBE3A in Fetal anomalies


    Version 1.465

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Angelman syndrome MIM#105830