CYP21A2

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)

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:

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)

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)

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

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