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Genetic Epilepsy v0.1325 | ELOVL4 |
Zornitza Stark changed review comment from: 5 unrelated families reported, seizures in at least 4 of the families. Sources: Expert Review; to: 5 unrelated families reported, seizures in at least 4 of the families. Note mono-allelic variants cause retinopathy/SCA. Sources: Expert Review |
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Genetic Epilepsy v0.1325 | ELOVL4 | Zornitza Stark Marked gene: ELOVL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1325 | ELOVL4 | Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1325 | ELOVL4 | Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1325 | ELOVL4 | Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1324 | ELOVL4 |
Zornitza Stark gene: ELOVL4 was added gene: ELOVL4 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELOVL4 were set to 22100072; 24571530; 33652762 Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457) Review for gene: ELOVL4 was set to GREEN Added comment: 5 unrelated families reported, seizures in at least 4 of the families. Sources: Expert Review |