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Mendeliome

Gene: SLC25A25

Red List (low evidence)

SLC25A25 (solute carrier family 25 member 25)
EnsemblGeneIds (GRCh38): ENSG00000148339
EnsemblGeneIds (GRCh37): ENSG00000148339
OMIM: 608745, Gene2Phenotype
SLC25A25 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

SLC25A25 encodes mitochondrial ATP-Mg/Pi carrier 3

A single missense variant was reported in 2 families with renal stones in 2021 by Jabalameli et al (PMID: 3436195).
In family 1 there was 4 affected individuals who shared the same heterozygous variant NM_001330988.2 c.1083G>C|p.Gln361His, however this variant was also seen in 7 individuals in the family without stones
In family 2 there were 7 affected individuals who also had p.Gln361His however this variant was also seen in 3 family members without stones.

This variant is located within the mitochondrial carrier domain and functional studies were performed looking at uptake of radioactive ATP compared to wild type. These studies demonstrated the variant protein had approximately 21% activity compared to wild type.

The variant was proposed to have incomplete penetrance and it should be noted there is 4352 heterozygotes in gnomad 4.

At this time there is insufficient evidence for a gene disease association between SLC25A25 and nephrolithiasis.
Sources: Literature
Created: 7 Mar 2025, 12:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nephrolithiasis MONDO:0008171,SLC25A25 related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nephrolithiasis MONDO:0008171,SLC25A25 related
OMIM
608745
Clinvar variants
Variants in SLC25A25
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

7 Mar 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a25 has been classified as Red List (Low Evidence).

7 Mar 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A25 was added gene: SLC25A25 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC25A25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC25A25 were set to 34346195 Phenotypes for gene: SLC25A25 were set to Nephrolithiasis MONDO:0008171,SLC25A25 related Penetrance for gene: SLC25A25 were set to Incomplete Review for gene: SLC25A25 was set to RED