ClinGen Dosage Sensitivity Curation Page

RXFP2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000013.10) (NC_000013.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Ferlin et al (2003) identified 3 missense mutations (P93L, R102C, and R102H) in RXFP2 in 4 patients with cryptorchidism; these mutations were not found in 80 controls or in a cohort of 150 noncryptorchid infertile men (PMID:12970298). Gorlov et al (2002) identified a T222P missense mutation in RXFP2 in 1 of 60 patients with cryptorchidism (PMID:12217959). In 2 related males (brothers) with Peters-plus syndrome and cryotorchidism, Lesnik Oberstein et al (2006) identified an interstitial deletion encompassing the RXFP2 gene at 13q12.3-q13.1 (PMID:16909395), but other genes were deleted in these patients. In mice, several mutations in RXFP2 have been reported to cause cryptorchidism (PMID:11353515, 22258617, 20963592). At this time, there is not enough evidence to definitively conclude that loss of function of RXFP2 is the causative mechanism (e.g. PMID:20636340).

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