Patent ID: 8614094
Filing Date: 2013-12-24
Classification: A01K,C07K,C12Q,G01N,Y10T

Abstract:
1. A method of identifying or predicting a predisposition to, or the presence of, a ciliopathy or any genetic disorder of a cellular cilia or cilia anchoring structure, basal body or ciliary function in an individual, comprising: (i) analyzing a sample from the individual to detect the presence of at least one Transmembrane Protein 216 (TMEM216) genetic variant in the individual, wherein the at least one TMEM216 genetic variant encodes an amino acid variation from wild type selected from the group consisting of R73L, R73H, R73C, L3X, L114R, G77A and R85X, and (ii) identifying or predicting a predisposition to, or the presence of, the ciliopathy or the genetic disorder of a cellular cilia or cilia anchoring structure, basal body or ciliary function, if the TMEM216 genetic variant is detected.