CYP11B1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CYP11B1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Tags
  • treatable

Green CYP11B1 in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
  • Aldosteronism, glucocorticoid-remediable, MIM# 103900
Tags
  • treatable

Green CYP11B1 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.15

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Aldosteronism, glucocorticoid-remediable, MIM# 103900
    Tags
    • treatable

    Green CYP11B1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

    Green CYP11B1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010

    Green CYP11B1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010
    Tags
    • treatable
    • endocrine

    Green CYP11B1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.18

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Aldosteronism, glucocorticoid-remediable, MIM# 103900