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 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Green
in Disorders of sex development
R-numbers: R146
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743