C2orf69
HGNC:26799 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
1Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in C2orf69 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 2 | 2 |
Linked variants
Variants normalized to C2orf69| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Pro107Arg | p.Pro107Arg | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 20 | 1 |
Supporting publications
2 records- 2025Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.Journal of medical geneticsPubMed ↗
- 2021Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.American journal of human geneticsPubMed ↗