Activity
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12 actions
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| Early onset or syndromic epilepsy v8.138 | CTSF | Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: CTSF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | CTSF | Achchuthan Shanmugasundram reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | CTSF |
Arina Puzriakova Source Expert Review Green was added to CTSF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v7.52 | CTSF | Sarah Leigh Added comment: Comment on publications: PMID: 39720560 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.52 | CTSF | Sarah Leigh Publications for gene: CTSF were set to 16508006; 39720560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.51 | CTSF | Sarah Leigh Tag Q1_25_ promote_green tag was added to gene: CTSF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.51 | CTSF | Sarah Leigh reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 39720560; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.49 | CTSF | Sarah Leigh Publications for gene: CTSF were set to 16508006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.48 | CTSF | Sarah Leigh Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362; neuronal ceroid lipofuscinosis 13, MONDO:0014147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | CTSF | Rebecca Foulger reviewed gene: CTSF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | CTSF | Tracy Lester reviewed gene: CTSF: Rating: AMBER; Mode of pathogenicity: ; Publications: 16508006; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.187 | CTSF |
Rebecca Foulger gene: CTSF was added gene: CTSF was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to 16508006 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 |
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