ClinGen Dosage Sensitivity Curation Page

PHF3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
25363768 Iossifov et al (2014) used exome sequencing (including parental samples and confirmatory methods for de novo variants) on Simons Simplex Collection samples to identify variants associated with autism spectrum disorder. One de novo frameshift variant was identified in a patient. Of note, this appears to be the same patient described by Dong et al (2014, PMID 25284784).
28263302 Yuen et al (2017) performed genome sequencing (including parental samples and confirmatory methods for de novo variants) on families with autism spectrum disorder. One de novo frameshift variant was identified in a patient (the DNA sequence change occurred in exon 10 of 15 or 12 of 17, depending on transcript). In this cohort, the following PHF3 putative loss-of-function variants were also identified: a frameshift of unknown inheritance, a frameshift inherited from an unaffected parent (sequence change located upstream of the previously mentioned de novo change), and a nonsense variant in the last exon inherited from an unaffected parent.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No reports of focal PHF3 duplications.