1. Genes and Genomic Entities
  2. CYP21A2

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 2: Endocrinology
Version 4.11
Latest signed off version: v4.0 (30 Apr 2025)

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 1.23

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 Differences in sex development


Level 2: Endocrinology
Version 4.20
Latest signed off version: v4.5 (1 May 2024)

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


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

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 Congenital adrenal hyperplasia diagnostic test


Level 2: Endocrinology
Version 1.3
Latest signed off version: v1.0 (14 Sep 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, OMIM:201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, OMIM:201910
  • classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, MONDO:0008728