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| Genetic Epilepsy v0.2231 | SYNE1 | Zornitza Stark Phenotypes for gene: SYNE1 were changed from Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 to Neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2230 | SYNE1 | Zornitza Stark Mode of inheritance for gene: SYNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2224 | SYNE1 | Elena Savva Marked gene: SYNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2224 | SYNE1 | Elena Savva Gene: syne1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2224 | SYNE1 |
Elena Savva gene: SYNE1 was added gene: SYNE1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SYNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to PMID: 31703138; 37096302; 30573412 Phenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 Review for gene: SYNE1 was set to RED Added comment: PMID: 31703138 - PTC in a child featuring infantile epilepsy and developmental disorder, inherited from a father with a history of convulsions in infancy PMID: 37096302;30573412 - review, no reports noted of patients with seizures/epilepsy. Gene was listed in the Oliver list Sources: Literature |
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