Genomics England
GMS Panels
Panels
Genes and Entities

SRD5A2

steroid 5 alpha-reductase 2
OMIM: 607306
PanelMode of inheritanceDetails
2 panels
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudovaginal perineoscrotal hypospadias 264600
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudovaginal perineoscrotal hypospadias 264600