1. Genes and Genomic Entities
  2. CYP21A2

CYP21A2

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red CYP21A2 in Congenital adrenal hypoplasia

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

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 1.21

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 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    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 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 1.184

    		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
    Green CYP21A2 in Congenital adrenal hyperplasia diagnostic test


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS