Activity
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| Early onset or syndromic epilepsy v8.57 | LAMC3 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (six unrelated cases) for the association of biallelic LAMC3 variants with seizures. Hence, this gene should be promoted to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available (six unrelated cases) for the association of biallelic LAMC3 variants with seizures. The 'Disputed' rating in ClinGen is only relevant to monoallelic MOI. Hence, this gene should be promoted to green rating with biallelic MOI in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.49 | LAMC3 | Achchuthan Shanmugasundram Classified gene: LAMC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.49 | LAMC3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases) for the association of biallelic LAMC3 variants with seizures. Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.49 | LAMC3 | Achchuthan Shanmugasundram Gene: lamc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.48 | LAMC3 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: LAMC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.48 | LAMC3 |
Achchuthan Shanmugasundram changed review comment from: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. Childhood-onset seizures is the most common clinical manifestation that is reported in all patients except the foetal case. Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene has also been rated green on the epilepsy panel in PanelApp Australia. Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen. Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265) This was based on the following evidence: Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340). Sources: Literature; to: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. Childhood-onset seizures is the most common clinical manifestation that is reported in all patients except the foetal case. Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene has also been rated green with biallelic MOI on Genetic epilepsy panel in PanelApp Australia (https://panelapp-aus.org/panels/202/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen. Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265) This was based on the following evidence: Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340). Sources: Literature |
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| Early onset or syndromic epilepsy v8.48 | LAMC3 |
Achchuthan Shanmugasundram gene: LAMC3 was added gene: LAMC3 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMC3 were set to 21572413; 26802095; 29247375; 33639934; 34354730 Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, OMIM:614115; occipital pachygyria and polymicrogyria, MONDO:0013583 Review for gene: LAMC3 was set to GREEN Added comment: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. Childhood-onset seizures is the most common clinical manifestation that is reported in all patients except the foetal case. Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene has also been rated green on the epilepsy panel in PanelApp Australia. Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen. Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265) This was based on the following evidence: Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340). Sources: Literature |
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