CYP11B2

Amber CYP11B2 in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 3.11
Latest signed off version: v3.0 (30 Nov 2022)

Sources

• Expert Review Amber
• 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
• Q1_23_promote_green

Green CYP11B2 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21

Component of the following Super Panels:

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 1.119

Component of the following Super Panels:

Sources

• Eligibility statement prior genetic testing

Red CYP11B2 in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red

Red CYP11B2 in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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