| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2040 | CPT2 | Elena Savva Marked gene: CPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2040 | CPT2 | Elena Savva Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2040 | CPT2 | Elena Savva Classified gene: CPT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2040 | CPT2 | Elena Savva Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2038 | CPT2 |
Andrew Fennell gene: CPT2 was added gene: CPT2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to PMID: 20301431; 35028265; 36478999 Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110 Review for gene: CPT2 was set to GREEN Added comment: GeneReviews quotes seizures as a core component of the phenotype in lethal neonatal and severe infantile forms of the disorder. PMID: 36478999 - single report of a 10yo male with CPT2 who developed focal seizures during an acute episode. PMID: 35028265 - single report of a male who presented at 5 months of age with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency. He also had X‐linked nephrogenic diabetes insipidus. He developed focal seizures at 17yo. Sources: Literature |
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