Genomics England
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Panels
Genes and Entities
CYP51A1
cytochrome P450 family 51 subfamily A member 1
OMIM:
601637
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Panel
Mode of inheritance
Details
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Bilateral congenital or childhood onset cataracts
R-numbers:
R31
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive cataract due to abnormal sterol metabolism