Genomics England
GMS Panels
Panels
Genes and Entities

CYP21A2

cytochrome P450 family 21 subfamily A member 2
OMIM: 613815
PanelMode of inheritanceDetails
3 panels
Green
in Congenital adrenal hyperplasia diagnostic test
R-numbers: R180
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in Disorders of sex development
R-numbers: R146
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
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
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency