SRD5A2

steroid 5 alpha-reductase 2
OMIM: 607306, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SRD5A2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias, MIM# 264600

Green SRD5A2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias, MIM# 264600

Amber SRD5A2 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • Expert Review Amber
  • NSW Health Pathology

Green SRD5A2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias 264600