Activity
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| Intellectual disability v11.4 | ELAVL2 | Achchuthan Shanmugasundram Classified gene: ELAVL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.4 | ELAVL2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene with a neurodevelopmental disorder with intellectual disability as the primary feature of the disorder. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.4 | ELAVL2 | Achchuthan Shanmugasundram Gene: elavl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.3 | ELAVL2 | Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: ELAVL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.3 | ELAVL2 |
Achchuthan Shanmugasundram gene: ELAVL2 was added gene: ELAVL2 was added to Intellectual disability. 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MONDO:0700092 Review for gene: ELAVL2 was set to GREEN Added comment: PMID:42556336 (2026) reported 13 previously unpublished individuals, plus three previously reported cases, presenting with developmental delay, intellectual disability of varying severity, autism spectrum disorder, seizures (absence, febrile, tonic-clonic), sleep disturbances (insomnia, sleep apnea), sensory processing abnormalities (hyper- and hyposensitivity to sound, texture, light), and behavioral/emotional dysregulation with attention deficits. Among the 13 newly described individuals, ID severity was mild in 4, moderate in 1, severe in 2, borderline in 2, and unspecified learning difficulties in 2; one individual had no ID, and one was not formally assessed. These individuals were identified with de novo heterozygous variants in ELAVL2, including two structural variants (a pericentric inversion and a reciprocal translocation disrupting the gene), five truncating variants (c.142C>T/p.Gln48*, c.166_167del/p.Lys56Glufs8, c.189dup/p.Glu64, c.380dupT/p.Leu127Phefs48, c.657C>G/p.Tyr219), and six missense variants (c.154C>A/p.Gln52Lys, c.159G>C/p.Glu53Asp, c.475G>A/p.Asp159Asn, c.527G>A/p.Arg176Gln, c.695A>C/p.Gln232Pro, c.913G>A/p.Val305Met). ID was present in 3/7 individuals with truncating/structural variants versus 6/6 individuals with missense variants, with the most severely affected individual (severe ID, walking at 6 years, first words at 6 years) also carrying a pathogenic NF1 variant that may have contributed to disease severity. Motor delay was seen in 6/7 individuals with truncating/structural variants and 5/6 with missense variants, while speech delay occurred in 5/7 and 6/6, respectively; one adult female with a structural variant additionally presented with premature ovarian insufficiency. 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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