CYP11B1

cytochrome P450 family 11 subfamily B member 1
OMIM: 610613, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CYP11B1 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
    • Aldosteronism, glucocorticoid-remediable, 103900
    • Early onset hypertension with raised urinary 18-hydroxy-steroids
    • steroid-sensitive.

    Red CYP11B1 in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green CYP11B1 in Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.51
    Latest signed off version: v2.2 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Other
    • UKGTN
    Phenotypes
    • Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
    • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010

    Green CYP11B1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Aldosteronism, glucocorticoid-remediable 103900
    • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010

    Green CYP11B1 in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aldosteronism, glucocorticoid-remediable, 103900
    • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010