Genomics England
GMS Panels
Panels
Genes and Entities

CYP11B1

cytochrome P450 family 11 subfamily B member 1
OMIM: 610613
PanelMode of inheritanceDetails
2 panels
Green
in Disorders of sex development
R-numbers: R146
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aldosteronism, glucocorticoid-remediable 103900, Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010