This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Red
- Phenotypes
-
- Nephronophthisis-like nephropathy 1, OMIM #613159
- OMIM
- 613553
- Clinvar variants
- Variants in XPNPEP3
- Penetrance
- None
- Publications
- 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
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: XPNPEP3 was added gene: XPNPEP3 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Red,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356 Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, OMIM #613159