XPNPEP3

X-prolyl aminopeptidase 3
OMIM: 613553
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163
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
R-numbers: R257
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1 OMIM:613159, nephronophthisis-like nephropathy 1 MONDO:0013163