Genomics England

XPNPEP3

X-prolyl aminopeptidase 3

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease Signed-off version 4.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
Green in Tubulointerstitial kidney disease R-numbers: R202 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163