ClinGen Dosage Sensitivity Curation Page

GOLGA2P2Y

  • Curation Status: Complete

Location Information

Select assembly: (NC_000024.9) (NC_000024.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

GOLGA2P2Y is located within the AZFc region that causes spermatogenic failure when deleted. However, the clinical effect of a focal deletion of GOLGA2P2Y is unknown. Repping et al. (2004) report a 1.8 Mb deletion, designated b2/b3, which is found on the geneological branch N which is a Y chromosome branch that is found through Eurasia with high frequency. This b2/b3 deletion contains one copy of GOLGA2P2Y, rather than two, but does not appear to affect spermatogenesis. However, the more common gr/gr deletion, which is of similar size and gene content, also contains only one copy of GOLGA2P2Y and this deletion is associated with spermatogenic failure. This phenotype would not be an appropriate indication for chromosome microarray.

The ratings for loss-of-function and triplosensitivity for genes on the Y chromosome are made in the same fashion as for genes linked to autosomal dominant disorders.

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

The ratings for loss-of-function and triplosensitivity for genes on the Y chromosome are made in the same fashion as for genes linked to autosomal dominant disorders.