ClinGen Dosage Sensitivity Curation Page

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.