ClinGen Dosage Sensitivity Curation Page

19q13.3 region (PSG gene cluster)

  • Curation Status: Complete


Location Information

Select assembly: (NC_000019.9) ()
  • Haploinsufficiency score: Haploinsufficiency unlikely
  • Strength of Evidence (disclaimer): Haploinsufficiency unlikely

Haploinsufficiency phenotype comments:

This region contains genes that code for a number of pregnancy specific beta-1-glycoproteins (PSGs). To date, there is no evidence to suggest haploinsufficiency of this region. There are many entries of benign deletions involving part of this genomic region in the public CNV database (DGV) of 'normal' controls.

  • Triplosensitivity score: Triplosensitivity unlikely
  • Strength of Evidence (disclaimer): Triplosensitivity unlikely

Triplosensitivity phenotype comment:

To date, there is no published evidence to suggest triplosensitivity of this region. There are several entries of duplications involving part of this genomic region in the public CNV databases of 'normal' controls.