Genomics England
GMS Panels
Panels
Genes and Entities

HSD17B3

hydroxysteroid 17-beta dehydrogenase 3
OMIM: 605573
PanelMode of inheritanceDetails
2 panels
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gender Assignment Gene Panel (UKGTN), Pseudohermaphroditism, male, with gynecomastia, 264300
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudohermaphroditism, male, with gynecomastia 264300