CYP21A2

cytochrome P450 family 21 subfamily A member 2
OMIM: 613815, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red CYP21A2 in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 2.11
Latest signed off version: v2.2 (19 Feb 2020)

review Not set
Sources
  • UKGTN
Phenotypes
  • Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency

Red CYP21A2 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.20

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910
    • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910

    Green CYP21A2 in Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.66
    Latest signed off version: v2.2 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
    • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910

    Green CYP21A2 in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

    Green CYP21A2 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910