Extreme early-onset hypertension
Gene: HSD11B2

HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000176387
EnsemblGeneIds (GRCh37): ENSG00000176387
OMIM: 614232, Gene2Phenotype
HSD11B2 is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: OMIM phenotypes last accessed on 15 October 2025.
Created: 15 Oct 2025, 2:12 p.m. | Last Modified: 15 Oct 2025, 2:12 p.m.

Panel Version: 1.22

Created: 15 Oct 2025, 2:12 p.m.
Last Modified: 15 Oct 2025, 2:12 p.m.
Panel version: 1.22

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. One reviewer recommends Green. Numerous variants reported.
Created: 7 Jun 2016, 9:17 a.m.

Created: 7 Jun 2016, 9:17 a.m.

Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature
Radboud University Medical Center, Nijmegen
UKGTN
Expert

Phenotypes

Apparent mineralocorticoid excess, OMIM:218030
apparent mineralocorticoid excess, MONDO:0009025

OMIM

614232

Clinvar variants

Variants in HSD11B2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

15 Oct 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HSD11B2 were changed from Apparent mineralocorticoid excess, 218030 to Apparent mineralocorticoid excess, OMIM:218030; apparent mineralocorticoid excess, MONDO:0009025

3 Aug 2016, Gel status: 4