| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.738 | GRN | Zornitza Stark Marked gene: GRN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.738 | GRN | Zornitza Stark Gene: grn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.738 | GRN | Zornitza Stark Classified gene: GRN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.738 | GRN | Zornitza Stark Gene: grn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.737 | GRN |
Elena Savva gene: GRN was added gene: GRN was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRN were set to PMID: 22608501; 31855245 Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11 614706 Review for gene: GRN was set to GREEN Added comment: PMID: 22608501 - 2 siblings with a homozygous PTC and neuronal ceroid lipofuscinosis. Both showed vision deterioration in their mid 20s, with MRI revealing cerebellar atrophy and ataxia PMID: 31855245 - 6 patients (4 families) with homozygous PTCs and start-loss. 5/6 report vision impairement, 6/6 cognitive deterioration, 3/6 cerebellar involvement, 3/6 seizures. Reviews previous reports, age of onset varies from 7-56 years old and seizures reported in a total of 7/11 patients. Sources: Literature |
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