This Panel is marked as Internal
Renal and urinary tract disorders
Gene: XPNPEP3
XPNPEP3 (X-prolyl aminopeptidase 3)
EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 18 panels
1 review
Miranda Durkie (Genetics)
Found in 2 families worldwideCreated: 26 Oct 2015, 5:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 613553
- Clinvar variants
- Variants in XPNPEP3
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Unexplained kidney failure in young people
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Acute rhabdomyolysis
- Rare multisystem ciliopathy disorders
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: Found in 2 families worldwide
20 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: XPNPEP3
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: XPNPEP3 was added gene: XPNPEP3 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: XPNPEP3 was set to Unknown Phenotypes for gene: XPNPEP3 were set to Ciliopathy genes associated with cystic kidney disease