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 Differences in sex development
R-numbers: R146
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010, Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010