LGI2
HGNC:18710 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
0Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in LGI2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| epilepsy | HP:0001250 | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| arthrogryposis | — | 1 | 1 |
Linked variants
Variants normalized to LGI2| 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 | — | 16 | 1 |
Supporting publications
1 records- 2022A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.American journal of human geneticsPubMed ↗