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Intellectual disability

Gene: UPF1

Amber List (moderate evidence)

UPF1 (UPF1, RNA helicase and ATPase)
EnsemblGeneIds (GRCh38): ENSG00000005007
EnsemblGeneIds (GRCh37): ENSG00000005007
OMIM: 601430, Gene2Phenotype
UPF1 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics).

PMID: 28539120 describes a patient with significant ID. The patient has SNVs in SQSTM1 and UPF1. The authors suggests that it is plausible that the haploinsufficiency of SQSTM1 may have caused neurofunctional defects, which the haploinsufficiency of UPF1 may have exacerbated.

As the patient in the second case has another variant in another gene, there is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Created: 4 Dec 2020, 3:20 p.m. | Last Modified: 4 Dec 2020, 3:20 p.m.
Panel Version: 3.599

Zornitza Stark (Australian Genomics)

I don't know

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (1 frameshift, 11 missense, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).
Sources: Literature
Created: 4 Nov 2020, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorders

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Developmental disorders
OMIM
601430
Clinvar variants
Variants in UPF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: upf1 has been classified as Amber List (Moderate Evidence).

4 Dec 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: UPF1 were set to 33057194

4 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UPF1 was added gene: UPF1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: UPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UPF1 were set to 33057194 Phenotypes for gene: UPF1 were set to Developmental disorders Review for gene: UPF1 was set to AMBER