CYP11B2

cytochrome P450 family 11 subfamily B member 2
OMIM: 124080, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CYP11B2 in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 4.11
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400
  • Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600
  • Aldosterone to renin ratio raised
Tags
  • treatable
Green CYP11B2 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.23

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aldosteronism, glucocorticoid-remediable, OMIM:103900
  • {Low renin hypertension, susceptibility to}
  • Aldosterone to renin ratio raised
Tags
  • chimeric-gene
Red CYP11B2 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review Not set
Sources
  • Eligibility statement prior genetic testing
Red CYP11B2 in Proteinuric renal disease


Level 2: Renal
Version 5.7
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Phenotypes
    • Hypoaldosteronism, congenital, due to CMO I deficiency #203400
    • Hypoaldosteronism, congenital, due to CMO II deficiency #610600