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Details of Gene

Item Details
Gene/Locus name

CYP1B1 (also called CP1B)

Long Name

cytochrome P450 family 1 subfamily B member 1 (OMIM 601771)

Associated Disorders

OMIM 231300 : Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
OMIM 617315 : Anterior segment dysgenesis 6, multiple subtypes

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

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