Possible mitochondrial disorder - nuclear genes
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
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1, 613159
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Mutations in this gene were reported in 2 consanguineous families from different ethnicities (Northern Finland and Turkey) with nephronophthisis-like nephropathy. This is a possible DD gene.Created: 26 Feb 2016, 11:58 a.m.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Nephronophthisis-like nephropathy 1, 613159
- OMIM
- 613553
- Clinvar variants
- Variants in XPNPEP3
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Acute rhabdomyolysis
- Likely inborn error of metabolism
- DDG2P
- Rhabdomyolysis and metabolic muscle disorders
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Skeletal dysplasia
- Fetal anomalies
- Mitochondrial disorders
- Unexplained kidney failure in young people
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: XPNPEP3 was added gene: XPNPEP3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS 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