LTBP2 (also called )

latent transforming growth factor beta binding protein 2 (OMIM 602091)

OMIM 251750 : Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
OMIM 614819 : ?Weill-Marchesani syndrome 3, recessive
OMIM 613086 : Glaucoma 3, primary congenital, D

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.

21/03/2017