Extreme early-onset hypertension
Gene: CYP11B2
Autosomal recessive variants in CYP11B2 causes Hypoaldosteronism, congenital, due to CMO I deficiency (MIM #203400) and due to CMO II deficiency (MIM #610600). Patients with these disorders present with salt loss and failure to thrive in early childhood and they do not present with hypertension.
Glucocorticoid-remediable aldosteronism (GRA, MIM #103900) is an autosomal-dominant disorder caused by chimeric duplication of CYP11B1 and CYP11B2 genes. These patients present with early-onset hypertension. Hence, the MOI in this panel should be 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' rather than 'BIALLELIC, autosomal or pseudoautosomal' as in 'Congenital adrenal hypoplasia' panel.Created: 6 Mar 2023, 10:42 a.m. | Last Modified: 6 Mar 2023, 3:14 p.m.
Panel Version: 1.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aldosteronism, glucocorticoid-remediable, OMIM:103900; {Low renin hypertension, susceptibility to}; Aldosterone to renin ratio raised
Additional chimeric gene in which the 5-prime regulatory sequences of the CYP11B1 gene is fused to the coding region of the CYP11B2 geneCreated: 20 Jun 2016, 6:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glucucorticoid-remediable hyperaldosteronsim
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 1/4 sources. One expert reviewer recommends Green.Created: 3 Aug 2016, 12:57 p.m.
Comment on phenotypes: Biallelic variants reported in Hypoaldosteronism, congenital, due to CMO I deficiency 203400 & Hypoaldosteronism, congenital, due to CMO II deficiency 610600Created: 3 Aug 2016, 12:32 p.m.
Comment on mode of pathogenicity: Gene fusion between 5' of CYP11B1 gene is fused to the coding region of the CYP11B2 gene results in increased expressionCreated: 3 Aug 2016, 12:27 p.m.
Comment on mode of inheritance: For Glucocorticoid-remediable aldosteronismCreated: 3 Aug 2016, 12:23 p.m.
Phenotypes for gene: CYP11B2 were changed from Aldosterone to renin ratio raised, Glucucorticoid-remediable hyperaldosteronsim to Aldosteronism, glucocorticoid-remediable, OMIM:103900; {Low renin hypertension, susceptibility to}; Aldosterone to renin ratio raised
Tag chimeric-gene tag was added to gene: CYP11B2.
Promoted 03/08/2016
This gene has been classified as Green List (High Evidence).
Publications for CYP11B2 were set to 1731223; 26309573; 23150505
Phenotypes for CYP11B2 were set to Aldosterone to renin ratio raised, Glucucorticoid-remediable hyperaldosteronsim
Mode of pathogenicity for CYP11B2 was changed to Other - please provide details in the comments
Mode of inheritance for CYP11B2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for CYP11B2 were set to 1731223; 26309573
Publications for CYP11B2 were set to 1731223
Mode of inheritance for CYP11B2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Phenotypes for CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO II deficiency, 610600
CYP11B2 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen