Disorders of sex development

Gene: CYP21A2

Green List (high evidence)

CYP21A2 (cytochrome P450 family 21 subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000231852
EnsemblGeneIds (GRCh37): ENSG00000231852
OMIM: 613815, Gene2Phenotype
CYP21A2 is in 5 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reported
Created: 13 Sep 2016, 7:51 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Most common cause of CAH. Mostly present as virlized 46,XX child at birth (70% of 46,XX) or salt losing crises around day 10 in boys. Incidence in UK about 1:18000. Adrenal insufficiency life threatening and needs steroid replacement. Difficult sometimes to detect on NGS as pseudogene mskes mapping and alignment difficult; there is a panel of common mutations or deletions which form the basis of Sanger based clinical testing.
Created: 4 Feb 2016, 12:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital adrenal hyperplasia with adrenal insufficiency

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • 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
OMIM
613815
Clinvar variants
Variants in CYP21A2
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

13 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP21A2 were set to 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

13 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CYP21A2 was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CYP21A2 were set to 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; Pan-Ethnic Carrier Screen: Targeted Mutation Panel (Emory)

20 May 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

CYP21A2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,UKGTN

20 May 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

CYP21A2All sources for gene: CYP21A2 were removed

20 May 2016, Gel status: 2

clearsources

Sarah Leigh (Genomics England Curator)

CYP21A2All sources for gene: CYP21A2 were removed

20 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CYP21A2 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Pan-Ethnic Carrier Screen: Targeted Mutation Panel (Emory)

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

CYP21A2 was added to Disorders of sex developmentpanel. Source: UKGTN

20 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CYP21A2 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory

20 May 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP21A2 was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CYP21A2 was created by ellenmcdonagh