Likely inborn error of metabolism

Gene: HSD11B2

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 12 Mar 2026, 10:16 a.m. | Last Modified: 12 Mar 2026, 10:16 a.m.

Panel Version: 8.94

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

• 7670488
• 7608290
• 9683587
• 17314322