AIPL1 (also called )

aryl hydrocarbon receptor interacting protein like 1 (OMIM 604392)

OMIM 604393 : Leber congenital amaurosis 4
OMIM 604393 : Cone-rod dystrophy
OMIM 604393 : Retinitis pigmentosa, juvenile

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