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Early onset or syndromic epilepsy v9.29 UNC79 Ida Ertmanska Classified gene: UNC79 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v9.29 UNC79 Ida Ertmanska Added comment: 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.
Early onset or syndromic epilepsy v9.29 UNC79 Ida Ertmanska Gene: unc79 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v9.28 UNC79 Ida Ertmanska changed review comment from: 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
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; to: 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
Early onset or syndromic epilepsy v9.28 UNC79 Ida Ertmanska changed review comment from: 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
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.
Sources: Literature; to: 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
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
Early onset or syndromic epilepsy v9.28 UNC79 Ida Ertmanska gene: UNC79 was added
gene: UNC79 was added to Early onset or syndromic epilepsy. 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
Added comment: 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
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.
Sources: Literature