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Early onset or syndromic epilepsy v5.6 | ASL | Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v5.6 | ASL | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v5.6 | ASL |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ASL. Tag Q4_23_NHS_review was removed from gene: ASL. |
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Early onset or syndromic epilepsy v5.6 | ASL | Eleanor Williams edited their review of gene: ASL: Added comment: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v5.5 | ASL |
Achchuthan Shanmugasundram Source NHS GMS was added to ASL. Source Expert Review Green was added to ASL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Early onset or syndromic epilepsy v4.141 | ASL |
Eleanor Williams Tag Q4_23_promote_green tag was added to gene: ASL. Tag Q4_23_NHS_review tag was added to gene: ASL. |
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Early onset or syndromic epilepsy v4.141 | ASL | Eleanor Williams Publications for gene: ASL were set to 36994644; 21744316; 28251416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v4.140 | ASL | Eleanor Williams Phenotypes for gene: ASL were changed from Argininosuccinic aciduria, OMIM:207900; argininosuccinic aciduria, MONDO:0008815 to Argininosuccinic aciduria, OMIM:207900; argininosuccinic aciduria, MONDO:0008815; seizure, HP:0001250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v4.139 | ASL | Eleanor Williams Classified gene: ASL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v4.139 | ASL | Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation of green rating subject to GMS review. 13 cases reported with ASA with epilepsy as a feature and variants in the ASL gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v4.139 | ASL | Eleanor Williams Gene: asl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v4.138 | ASL | Eleanor Williams commented on gene: ASL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v4.138 | ASL | Eleanor Williams Phenotypes for gene: ASL were changed from Seizure; Neurodevelopmental delay; Intellectual disability; Autism; Abnormality of movement; Ataxia; Hepatomegaly; Elevated hepatic transaminase; Renal tubular dysfunction; Abnormal hair morphology to Argininosuccinic aciduria, OMIM:207900; argininosuccinic aciduria, MONDO:0008815 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v4.133 | ASL |
Nour Elkhateeb changed review comment from: Epilepsy is reported as a common phenotype in individuals with argininosuccinic aciduria (ASA) with incidence between 42%-60% (PMID 36994644, 21744316, 28251416). The epilepsy phenotype occurs early in the natural history of ASA. The epilepsy phenotype is severe, with a significant cohort of patients presenting with pharmacoresistant seizures, and with status epilepticus. Epilepsy onset preceded ASA diagnosis in several reported patients (PMID: 36994644). Sources: Literature, ClinGen; to: Epilepsy is reported as a common phenotype in individuals with argininosuccinic aciduria (ASA) with incidence between 42%-60% (PMID 36994644, 21744316, 28251416). The epilepsy phenotype occurs early in the natural history of ASA, with a median between at 2-5.5 years (PMID 36994644, 21744316, 28251416). The epilepsy phenotype is severe, with a significant cohort of patients presenting with pharmacoresistant seizures, and with status epilepticus. Epilepsy onset preceded ASA diagnosis in several reported patients (PMID: 36994644). Sources: Literature, ClinGen |
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Early onset or syndromic epilepsy v4.133 | ASL |
Nour Elkhateeb changed review comment from: Epilepsy is reported as a common phenotype in individuals with argininosuccinic aciduria (ASA) with incidence between 42%-60%. The epilepsy phenotype occurs early in the natural history of ASA. The epilepsy phenotype is severe, with a significant cohort of patients presenting with pharmacoresistant seizures, and with status epilepticus. Epilepsy onset preceded ASA diagnosis in several reported patients. Sources: Literature, ClinGen; to: Epilepsy is reported as a common phenotype in individuals with argininosuccinic aciduria (ASA) with incidence between 42%-60% (PMID 36994644, 21744316, 28251416). The epilepsy phenotype occurs early in the natural history of ASA. The epilepsy phenotype is severe, with a significant cohort of patients presenting with pharmacoresistant seizures, and with status epilepticus. Epilepsy onset preceded ASA diagnosis in several reported patients (PMID: 36994644). Sources: Literature, ClinGen |
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Early onset or syndromic epilepsy v4.133 | ASL |
Nour Elkhateeb gene: ASL was added gene: ASL was added to Early onset or syndromic epilepsy. Sources: Literature,ClinGen Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 36994644; 21744316; 28251416 Phenotypes for gene: ASL were set to Seizure; Neurodevelopmental delay; Intellectual disability; Autism; Abnormality of movement; Ataxia; Hepatomegaly; Elevated hepatic transaminase; Renal tubular dysfunction; Abnormal hair morphology Penetrance for gene: ASL were set to Complete Review for gene: ASL was set to GREEN Added comment: Epilepsy is reported as a common phenotype in individuals with argininosuccinic aciduria (ASA) with incidence between 42%-60%. The epilepsy phenotype occurs early in the natural history of ASA. The epilepsy phenotype is severe, with a significant cohort of patients presenting with pharmacoresistant seizures, and with status epilepticus. Epilepsy onset preceded ASA diagnosis in several reported patients. Sources: Literature, ClinGen |
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Early onset or syndromic epilepsy v2.122 | ABCA2 |
Konstantinos Varvagiannis gene: ABCA2 was added gene: ABCA2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA2 were set to 30237576; 29302074; 31047799 Phenotypes for gene: ABCA2 were set to Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Penetrance for gene: ABCA2 were set to Complete Review for gene: ABCA2 was set to GREEN Added comment: Biallelic pathogenic ABCA2 variants cause Intellectual developmental disorder with poor growth and with or without seizures or ataxia (MIM 618808). There are 3 relevant publications (01-07-2020) : - Maddirevula et al [2019 - PMID: 30237576] described briefly 2 unrelated subjects (16-2987, 16DG0071) both DD and seizures among other manifestations. - Hu et al [2019 - PMID: 29302074] reported 3 sibs (M8600615 - III:1-3) born to consanguineous parents (M8600615 - III:1-3) with DD/ID (formal confirmation of moderate ID, in those (2) evaluated). One also presented with seizures. - Aslam and Naz [2019 - PMID: 31047799] provided clinical details on 2 siblings born to consanguineous parents. ID was reported for the older sib but was absent in the younger one. Seizures were not part of the phenotype. All subjects harbored biallelic pLoF variants. N.B. : Steinberg et al [2015 - PMID: 25773295], within a cohort of patients with ALS, identified one with biallelic ABCA2 variants. As however Aslam and Naz comment, this person harbored a single pathogenic variant, with a second one rather unlikely to be pathogenic due to high allele frequency. Overall this gene can be considered for inclusion with green rating in both ID and epilepsy panels (each in >=3 unrelated individuals). Sources: Literature |