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Intellectual disability

Gene: UNC79

Amber List (moderate evidence)
UNC79 (unc-79 homolog, NALCN channel complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000133958
EnsemblGeneIds (GRCh37): ENSG00000133958
OMIM: 616884, Gene2Phenotype
UNC79 is in 3 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are 5 unrelated individuals reported in literature with heterozygous de novo UNC79 variants and a neurodevelopmental disorder, including intellectual disability (mild to moderate). Hence, this gene should be promoted to Green at the next update.
Created: 8 Jul 2026, 10:55 a.m. | Last Modified: 8 Jul 2026, 10:55 a.m.
Panel Version: 10.51
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: 10.50

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 8 Jul 2026, 10:39 a.m.
Last Modified: 8 Jul 2026, 10:50 a.m.
Panel version: 10.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q3_26_promote_green
OMIM
616884
Clinvar variants
Variants in UNC79
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: unc79 has been classified as Amber List (Moderate Evidence).

8 Jul 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: UNC79 was added gene: UNC79 was added to Intellectual disability. Sources: Literature Q3_26_promote_green tags were added to gene: UNC79. Mode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC79 were set to 37183800 Phenotypes for gene: UNC79 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: UNC79 was set to GREEN