Hypertension and Aldosterone disorders
Gene: CYP11B2

CYP11B2 (cytochrome P450 family 11 subfamily B member 2)
EnsemblGeneIds (GRCh38): ENSG00000179142
EnsemblGeneIds (GRCh37): ENSG00000179142
OMIM: 124080, Gene2Phenotype
CYP11B2 is in 7 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple (>>3) unrelated individuals reported with hypoaldosteronism due to corticosterone methyloxidase type I or II deficiency.

CYP11B2 catalyses both the penultimate and ultimate steps in aldosterone biosynthesis. Variants affecting the penultimate step cause CMO I deficiency, while variants affecting only or predominantly the ultimate step cause CMO II deficiency, and the two overlap phenotypically but have distinct biochemical features (PMID:8772616, 9814506).
Created: 21 Sep 2020, 6:49 a.m. | Last Modified: 21 Sep 2020, 6:49 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Sep 2020, 6:49 a.m.
Last Modified: 21 Sep 2020, 6:49 a.m.
Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_AldoHypertension v38.1.0

Phenotypes

Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)

Tags

treatable

OMIM

124080

Clinvar variants

Variants in CYP11B2

Penetrance

None

Publications

Panels with this gene