Genomics England

polycystin 2, transient receptor potential cation channel

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease - Unexplained young onset end-stage renal disease Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Polycystic Kidney Disease, Autosomal Dominant, Polycystic kidney disease 2, 613095, Autosomal Dominant Polycystic Kidney Disease
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Polycystic kidney disease 613095
Green in Polycystic liver disease R-numbers: R173 Signed-off version 1.26	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Polycystic kidney disease 2, OMIM:613095, liver cysts
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Polycystic kidney disease 2, 613095