SLC25A42
HGNC:28380 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
2Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in SLC25A42 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| congenital myopathy | — | 2 | 2 |
| epilepsy | HP:0001250 | 1 | 1 |
Linked variants
Variants normalized to SLC25A42| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Asn291Asp | p.Asn291Asp | 2 | 2 |
| c.871A>G | c.871A>G | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 1 |
| Not specified | — | 24 | 1 |
| Not specified | — | 12 | 1 |
| Saudi Arabia | — | 15 | 1 |
Supporting publications
5 records- 2026SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.Clinical geneticsPubMed ↗
- 2021SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.JIMD reportsPubMed ↗
- 2019Autozygome and high throughput confirmation of disease genes candidacy.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗
- 2018Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.Clinical geneticsPubMed ↗
- 2016Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.Human geneticsPubMed ↗