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Likely inborn error of metabolism

Gene: HSD11B2

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the association of biallelic HSD11B2 variants with AME. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 15 Oct 2025, 2:09 p.m. | Last Modified: 15 Oct 2025, 2:09 p.m.
Panel Version: 8.62
Apparent mineralocorticoid excess (AME) is an autosomal recessive genetic disorder caused by the deficiency of the enzyme 11-beta-hydroxysteroid dehydrogenase type 2 (HSD11B2). This disorder is characterised by severe juvenile hypertension, metabolic alkalosis, hypernatremia, and hypokalemia.

Biallelic variants in HSD11B2 gene have been associated with apparent mineralocorticoid excess (MONDO:0009025) with a 'definitive' rating by the Tubulopathy expert panel in ClinGen (https://search.clinicalgenome.org/CCID:008414)

This gene is also associated with relevant phenotype in OMIM (MIM #218030, OMIM phenotype accessed on 15 October 2025).

There are more than 10 unrelated families reported with biallelic HSD11B2 variants and AME.
Sources: ClinGen
Created: 15 Oct 2025, 2:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Oct 2025, 2:06 p.m.

Panel version: 8.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • Apparent mineralocorticoid excess, OMIM:218030
  • apparent mineralocorticoid excess, MONDO:0009025
Tags
Q3_25_promote_green
OMIM
614232
Clinvar variants
Variants in HSD11B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: hsd11b2 has been classified as Amber List (Moderate Evidence).

15 Oct 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: HSD11B2.

15 Oct 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HSD11B2 was added gene: HSD11B2 was added to Likely inborn error of metabolism. Sources: ClinGen Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD11B2 were set to 7670488; 7608290; 9683587; 17314322 Phenotypes for gene: HSD11B2 were set to Apparent mineralocorticoid excess, OMIM:218030; apparent mineralocorticoid excess, MONDO:0009025 Review for gene: HSD11B2 was set to GREEN