Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Autism

Gene: UBE3A

Red List (low evidence)

UBE3A (ubiquitin protein ligase E3A)
EnsemblGeneIds (GRCh38): ENSG00000114062
EnsemblGeneIds (GRCh37): ENSG00000114062
OMIM: 601623, Gene2Phenotype
UBE3A is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/UBE3A Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder.
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Red
  • SFARI
OMIM
601623
Clinvar variants
Variants in UBE3A
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to UBE3A.

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: UBE3A was added gene: UBE3A was added to Autism. Sources: SFARI Mode of inheritance for gene: UBE3A was set to