Genomics England

PKD1

polycystin 1, transient receptor potential channel interacting

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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Polycystic kidney disease, adult type I, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD)
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Polycystic kidney disease, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD)
Green in Polycystic liver disease R-numbers: R173 Signed-off version 1.26	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Polycystic kidney disease 1, OMIM:173900, Caroli disease, MONDO:0010913
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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Polycystic kidney disease, adult type I, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD)