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Gene: XPNPEP3

Amber List (moderate evidence)

XPNPEP3 (X-prolyl aminopeptidase 3)
EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 10 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Nephronophthisis-like nephropathy-1 (NPHPL1) is an autosomal recessive cystic kidney disease characterized by the onset of progressive renal insufficiency in childhood. End-stage renal disease occurs in the first 3 decades of life. The disorder may be associated with extrarenal manifestations, including hepatic and central nervous system involvement.

HGNC approved symbol/name: XPNPEP3
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 14 Mar 2025, 1:42 a.m. | Last Modified: 14 Mar 2025, 1:42 a.m.
Panel Version: 1.1586

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis-like nephropathy 1, MIM# 613159

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Amber
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159 (3)
OMIM
613553
Clinvar variants
Variants in XPNPEP3
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XPNPEP3 was added gene: XPNPEP3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159 (3)