ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

UPF2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Evidence supporting haploinsufficiency of UPF2 is currently lacking; therefore the haploinsufficiency score is 0. Additional related evidence is summarized below. PMID 23376982: Nguyen et al. (2013) performed a focused analysis of genes in the NMD pathway to search for CNVs enriched in individuals with ID and/or congenital anomalies. They identified 11 cases with heterozygous UPF2 deletions (ranging in size from 2.0-15.5 Mb) and reported a 234 kb minimal deletion overlap region containing UPF2. As these deletions are non-focal, these cases are not included as evidence supporting haploinsufficiency. PMIDs 28135719 and 28191890: A de novo frameshift sequence variant of UPF2 was identified in a female patient with a developmental disorder, however, the clinical description of this individual was not available (Deciphering Developmental Disorders Study. 2017).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Evidence supporting triplosensitivity of UPF2 is currently lacking; therefore the triplosensitivity score is 0. Additional related evidence is summarized below. PMID 23376982: Nguyen et al. (2013) performed a focused analysis of genes in the NMD pathway to search for CNVs enriched in individuals with ID and/or congenital anomalies. They identified 13 cases with heterozygous UPF2 duplications (ranging in size from 12.7-37.7 Mb), in addition to 11 Mb-range sized deletions, and reported a 234 kb minimal deletion overlap region containing UPF2. As these duplications are non-focal, these cases are not included as evidence supporting triplosensitivity.