Unexplained kidney failure in young people
Gene: XPNPEP3EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 18 panels
1 review
Sarah Leigh (Genomics England Curator)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- Nephronophthisis-like nephropathy 1 OMIM:613159
- nephronophthisis-like nephropathy 1 MONDO:0013163
- OMIM
- 613553
- Clinvar variants
- Variants in XPNPEP3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Mitochondrial disorders
- DDG2P
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Cystic kidney disease
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: xpnpep3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: XPNPEP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: XPNPEP3 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: XPNPEP3 were changed from Ciliopathy genes associated with cystic kidney disease to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Added New Source
Sarah Leigh (Genomics England Curator)XPNPEP3 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red
Created
Sarah Leigh (Genomics England Curator)XPNPEP3 was created by sleigh