Activity
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| Likely inborn error of metabolism v8.62 | HSD11B2 | Achchuthan Shanmugasundram Classified gene: HSD11B2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.62 | HSD11B2 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.62 | HSD11B2 | Achchuthan Shanmugasundram Gene: hsd11b2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.61 | HSD11B2 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: HSD11B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.61 | HSD11B2 |
Achchuthan Shanmugasundram 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 Added comment: 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 |
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