Genomics England

inversin

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	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ciliopathy genes associated with cystic kidney disease
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 2 602088
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	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Senior-Loken syndrome, Nephronophthisis 2, infantile, 602088, Nephronophthisis
Green in Tubulointerstitial kidney disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R202 Signed-off version 3.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronopthisis 2, infantile MIM 602088