Aminoacidopathy
Gene: XPNPEP3
XPNPEP3 (X-prolyl aminopeptidase 3)
EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
XPNPEP3 is member of the X-pro-aminopeptidases family.
A total of 3 unrelated families (with different variants) reported with abnormal renal function due to an inborn error of peptide metabolism
32660933 - individual case with a rare frameshift variant p.Q241Tfs*13 who also had evidence of an inborn error of peptide metabolism.
Sources: OtherCreated: 19 Jul 2024, 12:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1 MONDO:0013163
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Nephronophthisis-like nephropathy 1 MONDO:0013163
- OMIM
- 613553
- Clinvar variants
- Variants in XPNPEP3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xpnpep3 has been classified as Green List (High Evidence).
19 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xpnpep3 has been classified as Green List (High Evidence).
19 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: XPNPEP3 was added gene: XPNPEP3 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 32660933; 20179356 Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MONDO:0013163 Review for gene: XPNPEP3 was set to GREEN