SRD5A2

steroid 5 alpha-reductase 2
OMIM: 607306, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SRD5A2 in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias 264600
Green SRD5A2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias 264600