Early onset or syndromic epilepsy

Gene: UNC79

Green List (high evidence)

Comment on list classification: There are 4 unrelated individuals reported in literature with heterozygous de novo UNC79 variants and syndromic epilepsy. Hence, this gene should be promoted to Green at the next update.

Created: 8 Jul 2026, 10:54 a.m. | Last Modified: 8 Jul 2026, 10:54 a.m.

Panel Version: 9.29

PMID: 37183800 Bayat et al., 2023
Study reports 6 unrelated individuals with heterozygous UNC79 variants. Phenotypic spectrum:
- 4/6 autistic features
- 5/6 patients mild-moderate ID
- 4/6 behavioural issues (aggression, stereotypies)
- 4/6 epilepsy (focal / tonic-clonic seizures)
- 5/6 hypotonia
Sequencing method: trio WES (5 individuals) / duo WES (1).
Functional evidence: Drosophila with UNC79 knocked down displayed induced seizure-like phenotype. Mice with a het LoF variant have a developmental delay in body weight compared with WT mice. In addition, they have impaired ability in learning and memory.

This gene is not yet associated with disease in OMIM or ClinGen, and there is a Limited association between UNC79 and UNC79-related intellectual disability with focal motor seizures (monoallelic LoF) in G2P. UNC79 is Green on Intellectual disability syndromic and non-syndromic and Genetic epilepsy panels in PanelApp Australia.
Sources: Literature

Created: 8 Jul 2026, 10:39 a.m. | Last Modified: 8 Jul 2026, 10:50 a.m.

Panel Version: 9.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

• 37183800