PanelApp
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  2. Congenital adrenal hyperplasia
Description
This panel contains genes associated with congenital adrenal hyperplasia.

For a high suspicion of 21-hydroxylase deficiency CAH: 
request a specific assay of CYP21A2 gene which includes analysis of deletions, duplications, and gene conversions.
Panel Activity

2 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

6 Entities

6 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
6 Entitiess
Green Green List (high evidence)
CYP11B1
1 review
1 green 		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 Green List (high evidence)
CYP17A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Tags
Green Green List (high evidence)
CYP21A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Tags
Green Green List (high evidence)
HSD3B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Tags
Green Green List (high evidence)
POR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Tags
Green Green List (high evidence)
STAR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipoid adrenal hyperplasia (MIM#201710)
Tags

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