Genomics England
GMS Panels
Panels
Genes and Entities

HSD3B2

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
OMIM: 613890
PanelMode of inheritanceDetails
1 panel
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810