CYP11A1

cytochrome P450 family 11 subfamily A member 1
OMIM: 118485
PanelMode of inheritanceDetails
3 panels
R-numbers: R150
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743, Congenital Adrenal Insufficiency
R-numbers: R146
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743