GBE1
HGNC:4180 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
0Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in GBE1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 2 | 2 |
Linked variants
Variants normalized to GBE1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 20 | 1 |
| Saudi Arabia · Madinah | — | — | 1 |
Supporting publications
3 records- 2025Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.Journal of medical geneticsPubMed ↗
- 2024Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.Journal of clinical medicinePubMed ↗
- 2021Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.American journal of human geneticsPubMed ↗