ClinGen Dosage Sensitivity Curation Page

DAZ1

  • 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:

To our knowledge, DAZ1-only deletions or duplications have not been reported in the peer reviewed literature. Larger deletions involving the DAZ cluster (i.e. DAZ1, DAZ2, DAZ3 and DAZ4 genes) have been associated with male infertility suggesting that DAZ plays an important role in spermatogenesis. Most of these deletions involve all four DAZ genes (so called AZFc deletions). An absence of only two of the DAZ genes (eg. DAZ1 and DAZ2) has also been associated with impaired spermatogenesis. Notably both AZFc deletions and the smaller nested deletions show incomplete penetrance and inter-individual (sometimes between father and son) variation in phenotype. A single study suggested that one of the deletions of the Y chromosome in AZFC region (designated gr/gr) also causes a slight increase in susceptibility to testicular germ cell tumors [Nathanson et al 2005].

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

Triplosensitivity phenotype comment:

To our knowledge, DAZ1-only deletions or duplications have not been reported in the peer reviewed literature.

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.