Early onset or syndromic epilepsy

Gene: CELF4

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (nine unrelated cases with seizures) for the promotion of this gene to green rating on this panel in the next GMS update.

Created: 20 Jun 2025, 6:36 p.m. | Last Modified: 20 Jun 2025, 6:36 p.m.

Panel Version: 8.5

PMID:40108438 reported 15 patients with heterozygous missense or loss-of-function variants clustering in the N-terminal of the CELF4 gene. Most patients presented with neurodevelopmental disorders including global developmental delay (12 patients), intellectual disability (8, of which moderate in 2, mild in 3, and severity not defined in 3), seizures (9) and overweight/obesity (10) that began in childhood. Clinical features are similar to the reported celf4-mouse mutant phenotype.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature

Created: 20 Jun 2025, 6:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

• 40108438