Activity
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| Early onset or syndromic epilepsy v9.61 | ELAVL2 | Achchuthan Shanmugasundram Classified gene: ELAVL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.61 | ELAVL2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (at least four unrelated cases and functional studies) available for the association of monoallelic ELAVL2 variants with epilepsy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.61 | ELAVL2 | Achchuthan Shanmugasundram Gene: elavl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.60 | ELAVL2 | Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: ELAVL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.60 | ELAVL2 |
Achchuthan Shanmugasundram gene: ELAVL2 was added gene: ELAVL2 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: ELAVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELAVL2 were set to 42556336 Phenotypes for gene: ELAVL2 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: ELAVL2 was set to GREEN Added comment: PMID:42556336 (2026) reported 13 previously unpublished individuals, plus three previously reported cases, with de novo heterozygous ELAVL2 variants presenting with a neurodevelopmental disorder in which epilepsy was a recurrent, though not universal, feature—seizures were reported in 4 of 13 newly described individuals (1/7 with truncating/structural variants and 3/6 with missense variants), comprising absence, febrile, tonic-clonic, and spasms (West syndrome in one individual with a missense variant). All affected individuals additionally presented with developmental delay, intellectual disability of varying severity, motor and speech delay, autism spectrum diagnoses, sleep disturbance, sensory processing abnormalities (hyper- or hyposensitivity to sound, texture, and light), and behavioural/emotional dysregulation. Drosophila loss-of-function models of the ELAVL2 ortholog fne (null mutant and pan-neuronal RNAi knockdown) showed significantly increased seizure-like behaviour (both duration and frequency) following mechanical induction, establishing a causal functional link between ELAVL2 loss-of-function and seizure susceptibility. This gene has not yet been associated with relevant phenotypes either in OMIM, ClinGen or Gene2Phenotype (last accessed 13 August 2026). Sources: Literature |
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