Mitochondrial disease
Gene: XPNPEP3
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
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, LiteratureCreated: 20 Mar 2020, 8:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1 MIM#613159
Publications
Gene: xpnpep3 has been classified as Red List (Low Evidence).
Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
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