Genomics England

PKHD1

PKHD1, fibrocystin/polyductin

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200, MONDO:0044327
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease - Unexplained young onset end-stage renal disease Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal Recessive Polycystic Kidney Disease, Polycystic Kidney Disease, Autosomal Recessive, Polycystic kidney and hepatic disease, 263200
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Green in Polycystic liver disease R-numbers: R173 Signed-off version 1.26	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200, 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 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polycystic kidney and hepatic disease, 263200