Differences in sex development
Gene: CYP21A2EnsemblGeneIds (GRCh38): ENSG00000231852
EnsemblGeneIds (GRCh37): ENSG00000231852
OMIM: 613815, Gene2Phenotype
CYP21A2 is in 5 panels
3 reviews
Ivone Leong (Genomics England Curator)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reportedCreated: 13 Sep 2016, 7:51 a.m.
John Achermann (UCL Institute of Child Health)
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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Upload gene information
Sarah Leigh (Genomics England Curator)CYP21A2 was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen
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)
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
clearsources
Sarah Leigh (Genomics England Curator)CYP21A2All sources for gene: CYP21A2 were removed
clearsources
Sarah Leigh (Genomics England Curator)CYP21A2All sources for gene: CYP21A2 were removed
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)
Added New Source
Sarah Leigh (Genomics England Curator)CYP21A2 was added to Disorders of sex developmentpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)CYP21A2 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CYP21A2 was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)CYP21A2 was created by ellenmcdonagh