Genomics England
GMS Panels
Panels
Genes and Entities

CYP11A1

cytochrome P450 family 11 subfamily A member 1
OMIM: 118485
PanelMode of inheritanceDetails
3 panels
Green
in Congenital adrenal hypoplasia
R-numbers: R150
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
drenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.20
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743