1. Panels
  2. Microcephaly
  3. UBE3A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Microcephaly

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Phenotypes
Angelman syndrome MIM#105830

Created: 4 Sep 2020, 10:39 a.m.
Last Modified: 4 Sep 2020, 10:39 a.m.
Panel version: 0.494

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Associated with Angelman syndrome, for which microcephaly is a common feature (https://www.ncbi.nlm.nih.gov/books/NBK1144/)

This gene is maternally expressed. Disease is the result of disruptions to the maternal allele or paternal UPD.
Created: 2 Sep 2020, 4:14 a.m. | Last Modified: 2 Sep 2020, 4:14 a.m.
Panel Version: 0.273

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

Phenotypes
Angelman syndrome MIM#105830

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Sep 2020, 4:14 a.m.
Last Modified: 2 Sep 2020, 4:14 a.m.
Panel version: 0.273

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
SV/CNV
OMIM
601623
Clinvar variants
Variants in UBE3A
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UBE3A was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

25 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: UBE3A.

4 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UBE3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

2 Sep 2020, 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).

2 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBE3A were changed from to Angelman syndrome MIM#105830

2 Sep 2020, Gel status: 3

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, NOT imprinted

17 Nov 2019, Gel status: 3

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 Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UBE3A was set to Unknown