GNAT2 (also called ACHM4)

G protein subunit alpha transducin 2 (OMIM 139340)

OMIM 613856 : Achromatopsia 4

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.

3/03/2016