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Severe microcephaly

Gene: UBE3A

Amber List (moderate evidence)

UBE3A (ubiquitin protein ligase E3A)
EnsemblGeneIds (GRCh38): ENSG00000114062
EnsemblGeneIds (GRCh37): ENSG00000114062
OMIM: 601623, Gene2Phenotype
UBE3A is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Postnatal microcephaly has been reported in Angelman syndrome patients, mostly amonst those with deletions rather than UPD of 15q.
Created: 19 Oct 2020, 10:04 a.m. | Last Modified: 19 Oct 2020, 10:04 a.m.
Panel Version: 2.28
Comment on mode of inheritance: In accordance with http://igc.otago.ac.nz/home.html
Created: 19 Oct 2020, 9:57 a.m. | Last Modified: 19 Oct 2020, 9:57 a.m.
Panel Version: 2.28

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

Phenotypes
Angelman syndrome 105830

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Microcephaly is a key feature.
Sources: Expert list
Created: 4 Sep 2020, 10:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Angelman syndrome MIM#105830

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

Details

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

History Filter Activity

19 Oct 2020, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

19 Oct 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UBE3A were set to

19 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ube3a has been classified as Amber List (Moderate Evidence).

19 Oct 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: UBE3A.

19 Oct 2020, Gel status: 0

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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)

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UBE3A was added gene: UBE3A was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: UBE3A were set to Angelman syndrome MIM#105830 Review for gene: UBE3A was set to GREEN gene: UBE3A was marked as current diagnostic