ClinGen Dosage Sensitivity Curation Page

GPR148

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

GPR148 resides within the recurrent 2q21.1 deletion interval, and has been proposed as a candidate gene within this region. Focal deletions and loss-of-function mutations have not been reported thus far; therefore the haploinsufficiency score is 0. Please see the linked region for further evidence relating to the 2q21.1 recurrent deletion/duplication.

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

Triplosensitivity phenotype comment:

GPR148 resides within the recurrent 2q21.1 duplication interval. Focal duplications have not been reported thus far; therefore the triplosensitivity score is 0. Please see the linked region for further evidence relating to the 2q21.1 recurrent deletion/duplication.