ClinGen Dosage Sensitivity Curation Page

SRD5A2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)

Haploinsufficiency phenotype comments:

This gene is associated with autosomal recessive pseudovaginal perineoscrotal hypospadias (5-alpha reductase deficiency).

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