Genomics England
GMS Panels
Panels
Genes and Entities

CYP51A1

cytochrome P450 family 51 subfamily A member 1
OMIM: 601637
PanelMode of inheritanceDetails
1 panel
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive cataract due to abnormal sterol metabolism