Genomics England
GMS Panels
Panels
Genes and Entities

HSD11B2

hydroxysteroid 11-beta dehydrogenase 2
OMIM: 614232
PanelMode of inheritanceDetails
1 panel
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Apparent mineralocorticoid excess, OMIM:218030, apparent mineralocorticoid excess, MONDO:0009025