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| Genetic Epilepsy v0.2599 | SERPINI1 | Sangavi Sivagnanasundram reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006114; Phenotypes: progressive myoclonus epilepsy MONDO:0020074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.566 | SERPINI1 | Zornitza Stark Marked gene: SERPINI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.566 | SERPINI1 | Zornitza Stark Gene: serpini1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.566 | SERPINI1 | Zornitza Stark Classified gene: SERPINI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.566 | SERPINI1 | Zornitza Stark Gene: serpini1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.563 | SERPINI1 |
Bryony Thompson gene: SERPINI1 was added gene: SERPINI1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SERPINI1 were set to 28631894; 25401298; 12103288 Phenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Review for gene: SERPINI1 was set to GREEN Added comment: >3 unrelated families with progressive myoclonus epilepsy. Sources: Expert list |
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