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PLA2G6 and epilepsy are reported together in 1 article.
Gene
PLA2G6
- HGNC
- HGNC:9039
8articles
8mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Epilepsy
- HPO
- HP:0001250
2,084articles
2,084mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60The natural history of infantile neuroaxonal dystrophy.
PMID 32357911 | PMCID PMC7193406 | DOI 10.1186/s13023-020-01355-2 · Orphanet journal of rare diseases · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PLA2G6 | “It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-independent phospholipase A2.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Other common clinical findings include nystagmus (60.7%), seizures (42.9%), gastrointestinal disease (42.9%), skeletal deformities (35.7%), and strabismus (28.6%).” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Riyadh | “MATERIALS AND METHODS: We comprehensively analyzed the charts of 28 patients: 16 patients from Riyadh, Saudi Arabia, 8 patients from North and South America and 4 patients from Europe with a molecularly confirmed diagnosis of PLA2G6-associated neurodegeneration (PLAN) and a clinical history consistent with INAD.” | 0.95 | saudi_context_rules_v1 |