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  2. Intellectual disability syndromic and non-syndromic
  3. UPF3B
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Intellectual disability syndromic and non-syndromic

Gene: UPF3B

Green List (high evidence)
UPF3B (UPF3B, regulator of nonsense mediated mRNA decay)
EnsemblGeneIds (GRCh38): ENSG00000125351
EnsemblGeneIds (GRCh37): ENSG00000125351
OMIM: 300298, Gene2Phenotype
UPF3B is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, more than 7 families reported, mouse model and other functional data.
Created: 23 Sep 2020, 9:55 p.m. | Last Modified: 23 Sep 2020, 9:55 p.m.
Panel Version: 0.3022

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked, syndromic 14, MIM# 300676

Publications

Created: 23 Sep 2020, 9:55 p.m.
Last Modified: 23 Sep 2020, 9:55 p.m.
Panel version: 0.3022

Arina Puzriakova (Genomics England)

Green List (high evidence)

PMID: 32667670 (2020) - Novel synonymous UPF3B variant (c.624G>A) identified in a male with ID, almost total absence of speech and language skills, and motor defects. Functional studies using patient-derived cells showed altered UPF3B RNA splicing, resulting in a frame-shifted protein with a premature stop codon predicted to elicit degradation via NMD. UPF3B is itself involved in NMD mechanisms, and authors were able to demonstrate dysregulation of multiple neurodevelopmental disorder genes in mutant cell lines. This indicated a role of UPF3B-dependent NMD in regulation of disease-relevant genes, and provides a plausible mechanism of pathology.
Created: 23 Sep 2020, 11 a.m. | Last Modified: 23 Sep 2020, 11 a.m.
Panel Version: 0.3022

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked, syndromic 14, 300676

Publications

Created: 23 Sep 2020, 11 a.m.
Last Modified: 23 Sep 2020, 11 a.m.
Panel version: 0.3022

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked, syndromic 14, MIM# 300676
OMIM
300298
Clinvar variants
Variants in UPF3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: upf3b has been classified as Green List (High Evidence).

23 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UPF3B were changed from to Mental retardation, X-linked, syndromic 14, MIM# 300676

23 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UPF3B were set to

23 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UPF3B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UPF3B was added gene: UPF3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UPF3B was set to Unknown