This Panel is marked as Deleted
Renal ciliopathies and nephronophthisis_KidGen_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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 613553
- Clinvar variants
- Variants in XPNPEP3
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Intellectual disability
- Cystic kidney disease
- Mitochondrial disorders
- Unexplained kidney failure in young people
- Rhabdomyolysis and metabolic muscle disorders
- Rare multisystem ciliopathy disorders
- DDG2P
- Hereditary neuropathy or pain disorder
- Thoracic dystrophies
- Primary ciliary disorders
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Fetal anomalies
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: XPNPEP3 was added gene: XPNPEP3 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: XPNPEP3 was set to Unknown