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Autism

Gene: UPF3B

Amber List (moderate evidence)

UPF3B (UPF3B, regulator of nonsense mediated mRNA decay)
EnsemblGeneIds (GRCh38): ENSG00000125351
EnsemblGeneIds (GRCh37): ENSG00000125351
OMIM: 300298, Gene2Phenotype
UPF3B 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/UPF3B Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder.
Created: 1 Apr 2019, 11:26 a.m.

History Filter Activity

1 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene UPF3B were changed from to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

29 Mar 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to UPF3B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: UPF3B was added gene: UPF3B was added to Autism. Sources: SFARI Mode of inheritance for gene: UPF3B was set to