OCRL (also called OCRL1)

OCRL, inositol polyphosphate-5-phosphatase (OMIM 300535)

OMIM 309000 : Lowe syndrome
OMIM 300555 : Dent disease 2

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.

5/10/2016