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Mendeliome

Gene: UPF1

Amber List (moderate evidence)

UPF1 (UPF1, RNA helicase and ATPase)
EnsemblGeneIds (GRCh38): ENSG00000005007
EnsemblGeneIds (GRCh37): ENSG00000005007
OMIM: 601430, Gene2Phenotype
UPF1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

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).
Sources: Literature
Created: 3 Nov 2020, 12:55 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
  • Literature
Phenotypes
  • Developmental disorders
OMIM
601430
Clinvar variants
Variants in UPF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

3 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

3 Nov 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UPF1 was added gene: UPF1 was added to Mendeliome. 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