CYP11B1

cytochrome P450 family 11 subfamily B member 1
OMIM: 610613
PanelMode of inheritanceDetails
2 panels
R-numbers: R146
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aldosteronism, glucocorticoid-remediable 103900, Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010