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Fetal anomalies

Gene: UPF3B

Red List (low 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)

Red List (low evidence)

Well established gene-disease association, more than 7 families reported, mouse model and other functional data. Clinical presentation is typically post-natal.
Created: 23 Sep 2020, 9:55 p.m. | Last Modified: 23 Feb 2022, 4:23 a.m.
Panel Version: 0.3970

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 Feb 2022, 4:23 a.m.
Panel version: 0.3970

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: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3022

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • 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 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: upf3b has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UPF3B were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UPF3B was added gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14