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Mitochondrial disease

Gene: XPNPEP3

Red List (low evidence)
XPNPEP3 (X-prolyl aminopeptidase 3)
EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

The protein localises to the mitochondria of renal cells, belongs to a family of X-pro-aminopeptidases, and has a role in ciliary function. Even though the enzyme is expressed in the mitochondria the function and condition (nephronophthisis-like nephropathy) associated with this gene do not truly represent a mitochondrial disorder.
Created: 23 Mar 2020, 3:55 a.m. | Last Modified: 23 Mar 2020, 3:55 a.m.
Panel Version: 0.318

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis-like nephropathy 1, MIM#613159

Publications

Created: 23 Mar 2020, 3:55 a.m.
Last Modified: 23 Mar 2020, 3:55 a.m.
Panel version: 0.318

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: No other families reported since the two reported in 2010, and the animal model is a zebrafish rather than mouse, thus set to amber.
Created: 20 Mar 2020, 8:33 a.m. | Last Modified: 20 Mar 2020, 8:33 a.m.
Panel Version: 0.245
Two families with two different homozygous variants, and a zebrafish model. The protein localises to the mitochondria of renal cells and is involved in mitochondrial homeostasis. It belongs to a family of X-pro-aminopeptidases, and has a role in ciliary function.
Sources: NHS GMS, Literature
Created: 20 Mar 2020, 8:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis-like nephropathy 1 MIM#613159

Publications

Created: 20 Mar 2020, 8:30 a.m.

Panel version: 0.244

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Nephronophthisis-like nephropathy 1 MIM#613159
OMIM
613553
Clinvar variants
Variants in XPNPEP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpnpep3 has been classified as Red List (Low Evidence).

20 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).

20 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).

20 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: XPNPEP3 was added gene: XPNPEP3 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356; 25778941 Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MIM#613159 Review for gene: XPNPEP3 was set to AMBER