Genomics England
GMS Panels
Panels
Genes and Entities

XPNPEP3

X-prolyl aminopeptidase 3
OMIM: 613553
PanelMode of inheritanceDetails
4 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
Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
Green
in Likely inborn error of metabolism
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 5.6
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
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
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
Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163