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Intellectual disability

Gene: ELAVL2

Red List (low evidence)
ELAVL2 (ELAV like RNA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000107105
EnsemblGeneIds (GRCh37): ENSG00000107105
OMIM: 601673, Gene2Phenotype
ELAVL2 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

PMID:42556336 (2026) reported 13 previously unpublished individuals, plus three previously reported cases, presenting with developmental delay, intellectual disability of varying severity, autism spectrum disorder,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
Created: 13 Aug 2026, 10:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 13 Aug 2026, 10:17 a.m.

Panel version: 11.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
OMIM
601673
Clinvar variants
Variants in ELAVL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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