XPNPEP3

X-prolyl aminopeptidase 3
OMIM: 613553, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green XPNPEP3 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Nephronophthisis-like nephropathy 1, OMIM #613159

Green XPNPEP3 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_CilioNephronop v38.1.0
  • Expert Review Green
Phenotypes
  • Nephronophthisis-like nephropathy 1, OMIM #613159

Amber XPNPEP3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Amber
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159 (3)

Green XPNPEP3 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159 (3)

Green XPNPEP3 in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Nephronophthisis-like nephropathy 1 MONDO:0013163