PanelApp
  1. Genes and Genomic Entities
  2. CYP11B2

CYP11B2

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CYP11B2 in Mendeliome


Version 1.3499

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).
Tags
  • treatable

Green CYP11B2 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.16

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review 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

    Green CYP11B2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)

    Green CYP11B2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#203400

    Green CYP11B2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400
    • Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600
    Tags
    • treatable
    • endocrine

    Green CYP11B2 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review 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)

    Green CYP11B2 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypoaldosteronism, congenital, due to CMO I deficiency MIM#203400
    • Hypoaldosteronism, congenital, due to CMO II deficiency MIM#610600