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Details of Gene

Item Details
Gene/Locus name

CYP17A1 (also called P450C17,CPT7,S17AH)

Long Name

cytochrome P450 family 17 subfamily A member 1 (OMIM 609300)

Laboratories
Associated Disorders

OMIM 202110 : 17,20-lyase deficiency, isolated
OMIM 202110 : 17-alpha-hydroxylase/17,20-lyase deficiency

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.

HGNC Last Edit Date

15/12/2017