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  3. CYP11B2
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Renal Tubulopathies and related disorders

Gene: CYP11B2

Green List (high evidence)
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: Imported from Hypertension and Aldosterone disorders 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)
OMIM
124080
Clinvar variants
Variants in CYP11B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP11B2 was added gene: CYP11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP11B2 were set to 9360501; 9814506; 12788848; 8439335; 8772616; 15240589 Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)