Activity
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| Intellectual disability v10.51 | UNC79 | Ida Ertmanska Classified gene: UNC79 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.51 | UNC79 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.51 | UNC79 | Ida Ertmanska Gene: unc79 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.50 | 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 |
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| Intellectual disability v10.50 | 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 |
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| Intellectual disability v10.50 | UNC79 |
Ida Ertmanska 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 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 |
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