Disorders of sex development
Gene: CYP21A2
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reportedCreated: 13 Sep 2016, 7:51 a.m.
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
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
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
CYP21A2 was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen
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)
CYP21A2 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,UKGTN
CYP21A2All sources for gene: CYP21A2 were removed
CYP21A2All sources for gene: CYP21A2 were removed
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)
CYP21A2 was added to Disorders of sex developmentpanel. Source: UKGTN
CYP21A2 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Model of inheritance for gene CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
CYP21A2 was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing
CYP21A2 was created by ellenmcdonagh